PMID: 14678759

Paintlia AS, Gilg AG, Khan M, Singh AK, Barbosa E, Singh I
Correlation of very long chain fatty acid accumulation and inflammatory disease progression in childhood X-ALD: implications for potential therapies.
Neurobiol Dis. 2003 Dec;14(3):425-39., [PubMed]
Sentences
No. Mutations Sentence Comment
61 ABCD1 p.Arg617Cys
X
ABCD1 p.Arg617Cys 14678759:61:196
status: NEW
view ABCD1 p.Arg617Cys details
 Furthermore, this patient showed a base change at nt 2235 C Ͼ T in X-ALD gene ABCD1 (previously documented missense mutation; Smith et al., 1999), which results in the replacement of normal Arg at position 617 with Cys (R617 C). Login to comment