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

Labay, V

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. [electronic resource] - Nature genetics Jul 1999 - 300-4 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

1061-4036

10.1038/10372 doi


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