PMID: 18637800

Camaschella C
Recent advances in the understanding of inherited sideroblastic anaemia.
Br J Haematol. 2008 Oct;143(1):27-38. Epub 2008 Jul 14., [PubMed]
Sentences
No. Mutations Sentence Comment
132 ABCB7 p.Glu433Lys
X
ABCB7 p.Glu433Lys 18637800:132:35
status: NEW
view ABCB7 p.Glu433Lys details
ABCB7 p.Val411Leu
X
ABCB7 p.Val411Leu 18637800:132:47
status: NEW
view ABCB7 p.Val411Leu details
ABCB7 p.Ile400Met
X
ABCB7 p.Ile400Met 18637800:132:24
status: NEW
view ABCB7 p.Ile400Met details
 The missense mutations (Ile400 Met Glu 433Lys, Val 411Leu) reported in patients are unable to rescue the Atm1p-deficient phenotype, indicating that they are partial loss of function mutations (reviewed in Fleming, 2002). Login to comment