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Volume 47(3);  1990 Sep

The cover of the journal

The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis.
S L Thein, P Winichagoon, C Hesketh, S Best, S Fucharoen, P Wasi, D J Weatherall
Am J Hum Genet. 1990 Sep; 47(3): 369–375.
PMCID:
PMC1683861
Summary Page Browse PDF–1.0MCite
A clinically homogeneous group of families with facioscapulohumeral (Landouzy-déjérine) muscular dystrophy: Linkage analysis of six autosomes
Stephen J. Jacobsen, Edward S. Diala, Bruce V. Dorsey, Marcia B. Rising, Rebecca Graveline, Kathleen Falls, Paul Schultz, Christopher Hogan, Kenneth Rediker, Colette D'Amico, Barbara Weiffenbach
Am J Hum Genet. 1990 Sep; 47(3): 376–388.
PMCID:
PMC1683887
Summary Page Browse PDF–1.6MCite
A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12
Scott D. Solomon, Anja A. T. Geisterfer-Lowrance, Hans-Peter Vosberg, Gudrun Hiller, John A. Jarcho, Cynthia C. Morton, Wesley O. McBride, Anna L. Mitchell, Allen E. Bale, William J. McKenna, J. G. Seidman, Christine E. Seidman
Am J Hum Genet. 1990 Sep; 47(3): 389–394.
PMCID:
PMC1683877
Summary Page Browse PDF–856KCite
Genetic mapping of two new DNA markers in Xq26-q28 relative to the fragile-X syndrome locus.
R Sood, L M Mulligan, R Poon, B N White, J J Holden
Am J Hum Genet. 1990 Sep; 47(3): 395–402.
PMCID:
PMC1683857
Summary Page Browse PDF–1.0MCite
Alpha 1-antitrypsin Null(isola di procida): an alpha 1-antitrypsin deficiency allele caused by deletion of all alpha 1-antitrypsin coding exons.
H Takahashi, R G Crystal
Am J Hum Genet. 1990 Sep; 47(3): 403–413.
PMCID:
PMC1683852
Summary Page Browse PDF–1.9MCite
Genetic analysis of apolipoprotein A-I in two dietary environments.
J Blangero, J W MacCluer, C M Kammerer, G E Mott, T D Dyer, H C McGill, Jr
Am J Hum Genet. 1990 Sep; 47(3): 414–428.
PMCID:
PMC1683868
Summary Page Browse PDF–2.2MCite
Variation at the apolipoprotein (apo) AI-CIII-AIV gene cluster and apo B gene loci is associated with lipoprotein and apolipoprotein levels in Italian children.
C F Xu, M N Nanjee, J Savill, P J Talmud, F Angelico, M Del Ben, R Antonini, B Mazzarella, N Miller, S E Humphries
Am J Hum Genet. 1990 Sep; 47(3): 429–439.
PMCID:
PMC1683867
Summary Page Browse PDF–1.5MCite
Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.
F Martiniuk, M Bodkin, S Tzall, R Hirschhorn
Am J Hum Genet. 1990 Sep; 47(3): 440–445.
PMCID:
PMC1683879
Summary Page Browse PDF–1.1MCite
Allan-Herndon syndrome. I. Clinical studies.
R E Stevenson, H O Goodman, C E Schwartz, R J Simensen, W T McLean, Jr, C N Herndon
Am J Hum Genet. 1990 Sep; 47(3): 446–453.
PMCID:
PMC1683863
Summary Page Browse PDF–1.9MCite
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.
C E Schwartz, J Ulmer, A Brown, I Pancoast, H O Goodman, R E Stevenson
Am J Hum Genet. 1990 Sep; 47(3): 454–458.
PMCID:
PMC1683855
Summary Page Browse PDF–697KCite
Human chromosome 5 complements the DNA double-strand break-repair deficiency and gamma-ray sensitivity of the XR-1 hamster variant.
A J Giaccia, N Denko, R MacLaren, D Mirman, C Waldren, I Hart, T D Stamato
Am J Hum Genet. 1990 Sep; 47(3): 459–469.
PMCID:
PMC1683886
Summary Page Browse PDF–2.1MCite
Monte Carlo comparison of preliminary methods for ordering multiple genetic loci.
J M Olson, M Boehnke
Am J Hum Genet. 1990 Sep; 47(3): 470–482.
PMCID:
PMC1683878
Summary Page Browse PDF–1.9MCite
Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).
U Francke, C L Hsieh, B E Foellmer, K J Lomax, H L Malech, T L Leto
Am J Hum Genet. 1990 Sep; 47(3): 483–492.
PMCID:
PMC1683885
Summary Page Browse PDF–2.1MCite
The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.
D F Callen, C J Freemantle, M L Ringenbergs, E Baker, H J Eyre, D Romain, E A Haan
Am J Hum Genet. 1990 Sep; 47(3): 493–498.
PMCID:
PMC1683854
Summary Page Browse PDF–1.2MCite
Application of DNA fingerprints for cell-line individualization.
D A Gilbert, Y A Reid, M H Gail, D Pee, C White, R J Hay, S J O'Brien
Am J Hum Genet. 1990 Sep; 47(3): 499–514.
PMCID:
PMC1683851
Summary Page Browse PDF–2.9MCite
HLA-DQα allele and genotype frequencies in various human populations determined by using enzymatic amplification and oligonucleotide probes
Rhea Helmuth, Nicola Fildes, Edward Blake, Michael C. Luce, J. Chimera, Roberta Madej, C. Gorodezky, Mark Stoneking, Norma Schmill, William Klitz, Russell Higuchi, Henry A. Erlich
Am J Hum Genet. 1990 Sep; 47(3): 515–523.
PMCID:
PMC1683881
Summary Page Browse PDF–1.2MCite
Exclusion of a schizophrenia susceptibility gene from the chromosome 5q11-q13 region: new data and a reanalysis of previous reports.
P McGuffin, M Sargeant, G Hetti, S Tidmarsh, S Whatley, R M Marchbanks
Am J Hum Genet. 1990 Sep; 47(3): 524–535.
PMCID:
PMC1683884
Summary Page Browse PDF–1.4MCite
Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.
D H Lester, C F Inglehearn, R Bashir, H Ackford, L Esakowitz, M Jay, A C Bird, A F Wright, S S Papiha, S S Bhattacharya
Am J Hum Genet. 1990 Sep; 47(3): 536–541.
PMCID:
PMC1683865
Summary Page Browse PDF–1.3MCite
Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.
I B Borecki, G M Lathrop, G E Bonney, J Yaouanq, D C Rao
Am J Hum Genet. 1990 Sep; 47(3): 542–550.
PMCID:
PMC1683860
Summary Page Browse PDF–1.3MCite
Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.
T Ozçelik, R G Lafreniere, B T Archer, 3rd, P A Johnston, H F Willard, U Francke, T C Südhof
Am J Hum Genet. 1990 Sep; 47(3): 551–561.
PMCID:
PMC1683862
Summary Page Browse PDF–2.0MCite
Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.
S Kajihara, T Mukai, Y Arai, M Owada, T Kitagawa, K Hori
Am J Hum Genet. 1990 Sep; 47(3): 562–567.
PMCID:
PMC1683875
Summary Page Browse PDF–1.0MCite
A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).
A Tanaka, H H Punnett, K Suzuki
Am J Hum Genet. 1990 Sep; 47(3): 568–574.
PMCID:
PMC1683872
Summary Page Browse PDF–1.4MCite
Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A.
J L Vives-Corrons, W Kuhl, M A Pujades, E Beutler
Am J Hum Genet. 1990 Sep; 47(3): 575–579.
PMCID:
PMC1683859
Summary Page Browse PDF–834KCite
The ethics of cystic fibrosis carrier screening: where do we stand?
M De Braekeleer, M J Mélançon
Am J Hum Genet. 1990 Sep; 47(3): 580–581.
PMCID:
PMC1683850
Summary Page Browse PDF–296KCite
Gestational age at maternal serum alpha-fetoprotein screening and the detection of Down syndrome.
K Waller, L Lustig, E Hook
Am J Hum Genet. 1990 Sep; 47(3): 581–583.
PMCID:
PMC1683856
Summary Page Browse PDF–316KCite
Defining DNA diagnostic tests appropriate or standard clinical care.
R V Lebo, G Cunningham, M J Simons, L J Shapiro
Am J Hum Genet. 1990 Sep; 47(3): 583–590.
PMCID:
PMC1683880
Summary Page Browse PDF–1.1MCite
Reply to Waller et al
Frank Greenberg, Deborah Del Junco, Elliot Alpert
Am J Hum Genet. 1990 Sep; 47(3): 583.
PMCID:
PMC1683873
Summary Page Browse PDF–134KCite
Appendectomy in Australian twins.
D L Duffy, N G Martin, J D Mathews
Am J Hum Genet. 1990 Sep; 47(3): 590–592.
PMCID:
PMC1683858
Summary Page Browse PDF–395KCite
A likelihood-based analysis of consistent linkage of a disease locus to two nonsyntenic marker loci: osteogenesis imperfecta versus COL1A1 and COL1A2.
D E Weeks
Am J Hum Genet. 1990 Sep; 47(3): 592–594.
PMCID:
PMC1683871
Summary Page Browse PDF–288KCite
Reply to Weeks
Bryan Sykes
Am J Hum Genet. 1990 Sep; 47(3): 593–594.
PMCID:
PMC1683864
Summary Page Browse PDF–221KCite

Book Reviews

Turner syndrome
Göran Annerén
Am J Hum Genet. 1990 Sep; 47(3): 595–596.
PMCID:
PMC1683874
Summary Page Browse PDF–332KCite
Myotonic dystrophy
Allen D. Roses
Am J Hum Genet. 1990 Sep; 47(3): 596.
PMCID:
PMC1683866
Summary Page Browse PDF–191KCite
Genetic strains and variants of the laboratory mouse
Greg Barsh
Am J Hum Genet. 1990 Sep; 47(3): 596–597.
PMCID:
PMC1683870
Summary Page Browse PDF–312KCite

Correction

Erratum
Am J Hum Genet. 1990 Sep; 47(3): 598.
Corrects:
Am J Hum Genet. 1990 Jun; 46(6): 1219.
PMCID:
PMC1683853
Correction PDF–11KCite

Journal Matter

Original table of contents page
PDF–220K
Administrative content — journal masthead, notices, indexes, etc.
PDF–1.0M
Advertisements
PDF–1.2M
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics