ABCD1 p.Ser514His
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PMID: 15643618
[PubMed]
Montagna G et al: "Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy."
No.
Sentence
Comment
78
The c.1540A>C (p.Ser514His) mutation was identified in exon 6 of the ABCD1 gene in the proband of families It-6-DI and It-7-FA.
X
ABCD1 p.Ser514His 15643618:78:17
status: NEW