PMID: 22398176

D'Hooghe M, Selleslag D, Mortier G, Van Coster R, Vermeersch P, Billiet J, Bekri S
X-linked sideroblastic anemia and ataxia: A new family with identification of a fourth ABCB7 gene mutation.
Eur J Paediatr Neurol. 2012 Nov;16(6):730-5. doi: 10.1016/j.ejpn.2012.02.003. Epub 2012 Mar 6., [PubMed]
Sentences
No. Mutations Sentence Comment
194 ABCB7 p.Val411Leu
X
ABCB7 p.Val411Leu 22398176:194:157
status: NEW
view ABCB7 p.Val411Leu details
 Maguire A, Hellier K, Hammans S, May A. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Login to comment 195 ABCB7 p.Val411Leu
X
ABCB7 p.Val411Leu 22398176:195:157
status: NEW
view ABCB7 p.Val411Leu details
 Maguire A, Hellier K, Hammans S, May A. X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L. Login to comment