ABCD1 p.Arg104Lys
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PMID: 24788897
[PubMed]
Durmaz A et al: "Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation."
No.
Sentence
Comment
67
p. R104H and p. R104K mutations occuring at the same amino acid residue had been previously reported (Kemp et al. 2001).
X
ABCD1 p.Arg104Lys 24788897:67:16
status: NEW