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source DB source ID text # proj. # Ann.
OMIM@xiajingbo 300473-5-NR0B1 Salvi et al. (2002) reported a patient who was diagnosed with adrenal failure (300200) at 6 weeks of 6 0 show
OMIM@xiajingbo 300256-3-HSD17B10 In a patient with HSD10 deficiency and mild mental retardation (300438) reported by Olpin et al. (20 6 0 show
OMIM@xiajingbo 187680-3-TPMT In an individual with thiopurine S-methyltransferase deficiency (610460), Otterness et al. (1998) id 6 0 show
OMIM@xiajingbo 159530-2-MPL Pikman et al. (2006) identified a somatic 1544G-T transversion in the MPL gene, resulting in a trp51 6 0 show
OMIM@xiajingbo 109700-2-B2M In 2 Turkish sibs, born of consanguineous parents, with immunodeficiency-43 (IMD43; 241600), Ardeniz 6 0 show
OMIM@xiajingbo 102565-4-FLNC In affected members of an Italian family with autosomal dominant distal myopathy-4 (MPD4; 614065), D 6 0 show
OMIM@xiajingbo 106180-2-ACE Factors involved in the pathogenesis of atherosclerosis, thrombosis, and vasoconstriction contribute 6 0 show
OMIM@xiajingbo 106180-1-ACE In 2 sibs with renal tubular dysgenesis (267430) from a consanguineous Turkish family, Gribouval et 6 0 show
OMIM@xiajingbo 103600-35-ALB In albumin Casebrook, an electrophoretically slow albumin variant with a relative molecular mass of 6 0 show
OMIM@xiajingbo 612779-3-DPYD Vreken et al. (1997) described a patient who was a compound heterozygote for a C29R mutation (612779 6 0 show