PMID: 11992258

Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
Am J Hum Genet. 2002 Jun;70(6):1520-31. Epub 2002 Apr 29., [PubMed]
Sentences
No. Mutations Sentence Comment
83 ABCD1 p.Ala626Thr
X
ABCD1 p.Ala626Thr 11992258:83:240
status: NEW
view ABCD1 p.Ala626Thr details
 Failure of Complementation Studies with X-ALD Fibroblasts to Correct the Defect Somatic-cell hybridization studies were performed with an ALDP immunonegative cell line derived from an individual with X-ALD and the ABCD1 mutation Nt1876GrA (A626T). Login to comment