Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness.

Labay, V; Raz, T; Baron, D; Mandel, H; Williams, H; Barrett, T; Szargel, R; McDonald, L; Shalata, A; Nosaka, K; Gregory, S; Cohen, N

Labay, V; Raz, T; Baron, D; Mandel, H; Williams, H; Barrett, T; Szargel, R; McDonald, L; Shalata, A; Nosaka, K; Gregory, S; Cohen, N.

Affiliation

Labay V; Department of Genetics, Tamkin Human Molecular Genetics Research Facility, Technion-Israel Institute of Technology, Bruce Rappaport Faculty of Medicine, Haifa.

Nat Genet ; 22(3): 300-4, 1999 Jul.

Article in En | MEDLINE | ID: mdl-10391221

Subject(s)

Anemia, Megaloblastic/genetics; Deafness/genetics; Diabetes Mellitus/genetics; Membrane Transport Proteins; Mutation; Amino Acid Sequence; Anemia, Megaloblastic/complications; Anemia, Megaloblastic/drug therapy; Animals; Base Sequence; Carrier Proteins/genetics; Cricetinae; DNA/genetics; DNA Primers/genetics; Deafness/complications; Diabetes Complications; Female; Genes, Recessive; Genetic Markers; Humans; Male; Mice; Molecular Sequence Data; Physical Chromosome Mapping; Sequence Homology, Amino Acid; Syndrome; Thiamine/metabolism; Thiamine/therapeutic use

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Database: MEDLINE Main subject: Membrane Transport Proteins / Deafness / Diabetes Mellitus / Anemia, Megaloblastic / Mutation Type of study: Risk_factors_studies Limits: Animals / Female / Humans / Male Language: En Journal: Nat Genet Journal subject: GENETICA MEDICA Year: 1999 Type: Article

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