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American Journal of Human Genetics|May 1, 1994
Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiencyF X Arredondo-Vega, I Santisteban, S Kelly, et al.
American Journal of Human Genetics|May 1, 1994
Diversity of beta-globin mutations in Israeli ethnic groups reflects recent historic eventsD Filon, V Oron, S Krichevski, et al.
American Journal of Human Genetics|February 1, 1993
A CA-repeat polymorphism close to the adenomatous polyposis coli (APC) gene offers improved diagnostic testing for familial APCL Spirio, L Nelson, K Ward, et al.
American Journal of Human Genetics|January 1, 1993
A genetic map of chromosome 20q12-q13.1: multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locusC B Rothschild, G Akots, R Hayworth, et al.
American Journal of Human Genetics|January 1, 1993
The mapping of the human 52-kD Ro/SSA autoantigen gene to human chromosome 11, and its polymorphismsM B Frank, K Itoh, A Fujisaku, et al.
American Journal of Human Genetics|April 1, 1994
Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in spermG Jansen, P Willems, M Coerwinkel, et al.
American Journal of Human Genetics|April 1, 1994
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patientsP Y Hu, A R Ernst, W S Sly, et al.
American Journal of Human Genetics|April 1, 1994
Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5qL van Herwerden, C S Rose, W Reardon, et al.
American Journal of Human Genetics|April 1, 1994
Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11B J Keats, N Nouri, M Z Pelias, et al.
American Journal of Human Genetics|August 1, 1994
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 casesF Rousseau, D Heitz, J Tarleton, et al.
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