PMID: 23926373

Schwab J, Pena L, Sigman L, Waggoner D
Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male.
Clin Pediatr Endocrinol. 2010 Jan;19(1):15-8. doi: 10.1297/cpe.19.15. Epub 2010 Mar 11., [PubMed]
Sentences
No. Mutations Sentence Comment
68 ABCD1 p.Ser98Leu
X
ABCD1 p.Ser98Leu 23926373:68:47
status: NEW
view ABCD1 p.Ser98Leu details
 293C>T that results in the amino acid change p.Ser98Leu. Login to comment