A novel mutation, Ile289Thr, in the ALAS2 gene in a family with pyridoxine responsive sideroblastic anaemia.
Percy
M J
MJ
Cuthbert
R J G
RJ
May
A
A
McMullin
M F
MF
D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000328:Adult; D000756:Anemia, Sideroblastic / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D011736:Pyridoxine / Q000627:therapeutic use; D014803:Vitamin B Complex / Q000627:therapeutic use
D014803:Vitamin B Complex; D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human; D011736:Pyridoxine