PMID: 16401743

Hodapp JA, Carter GT, Lipe HP, Michelson SJ, Kraft GH, Bird TD
Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes.
Arch Neurol. 2006 Jan;63(1):112-7., [PubMed]
Sentences
No. Mutations Sentence Comment
81 ABCD1 p.Arg389His
X
ABCD1 p.Arg389His 16401743:81:133
status: NEW
view ABCD1 p.Arg389His details
 DNA sequencing revealed a G-to-A substitution at nucleotide 1552 in the ABCD1 gene, causing an amino acid substitution at codon 389 (R389H) (genetic analysis by Kennedy Krieger Institute, Baltimore, Md). Login to comment