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PubMed 8621452 Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. Type II complement protein C2 deficiency is characterized 1.14 KB 2015-12-05 67 5
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PubMed 8755918 Mutations associated with variant phenotypes in ataxia-telangiectasia. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less sever 1.31 KB 2015-11-27 49 8
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PubMed 8944024 Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis. The ability to scan a large gene rapidly and accurately for all possible he 1.02 KB 2015-03-12 46 1
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PubMed 9019400 The TSG101 tumor susceptibility gene is located in chromosome 11 band p15 and is mutated in human breast cancer. Recent work has identified a mouse gene (tsg101) whose inactivation in fibroblasts resu 918 Bytes 2015-11-27 37 9
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PubMed 8625410 Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. The Rho family of GTPases control diverse biological processes, including cell morphol 1.03 KB 2015-11-27 37 5
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PubMed 8689689 Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. Aniridia in man and Small eye in mice are semidominant developmental disorders caused by mutations within 983 Bytes 2015-11-27 37 7
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PubMed 8674108 The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Mutations of the BRCA1 gone in humans are associated with predisposition to breast and ovarian cancers. W 1.11 KB 2015-12-05 35 3
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PubMed 8931695 Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. Mutations in the diastrophic dysplasia sulfate transporter gene DTDST have been associated with a family of 1.82 KB 2015-11-27 35 22
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PubMed 9028321 Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Programmed cell death (or apoptosis) is a physiological process essenti 1.24 KB 2015-11-28 33 7
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PubMed 8954016 Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: linkage to 1q21-q32 and loss of the wild type allele in renal hamartom 2.01 KB 2015-11-27 33 25
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