The spectrum of mutations, including four novel ones, in the Thiamine- Responsive Megaloblastic Anemia gene SLC19A2 of eight families

Human Mutation

Volumn 16, Issue 1, 2000, Pages 37-42

  Raz, Tal ^a   Labay, Valentina ^a   Baron, Dana ^a   Szargel, Raymonde ^a   Anbinder, Yefim ^a   Barrett, Tim ^b   Rabl, Wolfgang ^c   Viana, Marcos B ^d   Mandel, Hanna ^a   Baruchel, Andre ^e   Cayuela, Jean Michel ^e   Cohen, Nadine ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^d Department of Hematology   (Brazil)

^e SAINT LOUIS HOSPITAL   (France)

Author keywords

Deafness; Diabetes; Megaloblastic anemia; SLC19A2; Thiamine; TRMA

Indexed keywords

CARRIER PROTEIN; THIAMINE;

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENE DELETION; HUMAN; MALE; MEGALOBLASTIC ANEMIA; NONSENSE MUTATION; PRIORITY JOURNAL;

EID: 0033948251     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9     Document Type: Article

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