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PubMed 10090880 Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. 1.64 KB 2015-11-06 12 3
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PubMed 10194428 HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder 1.29 KB 2015-11-17 12 48
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PubMed 10196379 Germline BRCA1 alterations in a population-based series of ovarian cancer cases. The objective of this study was to provide more accurate frequency estimates of breast cancer susceptibility gene 1 ( B 1.56 KB 2015-11-15 12 9
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PubMed 10205262 Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). We recently showed that alkapto 1.28 KB 2015-11-15 13 3
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PubMed 10364520 MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Famil 1.56 KB 2015-11-15 14 24
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PubMed 10381492 The C282Y mutation causing hereditary hemochromatosis does not produce a null allele. Targeted mutagenesis was used to produce two mutations in the murine hemochromatosis gene (Hfe) locus. The first m 966 Bytes 2015-11-21 8 3
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PubMed 10465113 Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. We have observed over 25 different mutations in the diastroph 1.75 KB 2015-11-21 18 3
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PubMed 10471457 A population-based study of the clinical expression of the hemochromatosis gene. BACKGROUND AND METHODS: Hereditary hemochromatosis is associated with homozygosity for the C282Y mutation in the hemoch 2.3 KB 2015-11-15 11 5
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PubMed 10472529 Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis. The clinical use of molecular analyses in recessive disorders relies on the exact c 1.08 KB 2015-11-15 18 5
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PubMed 10502833 Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia. Argininemia is a rare autossomal recessive disorder caused by deficiency in 877 Bytes 2015-11-15 11 3
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