PMID: 26388597

Incecik F, Herguner MO, Mert G, Onenli-Mungan N, Ceylaner S, Kor D, Altunbasak S
X-linked adrenoleukodystrophy in a 6-year-old boy initially presenting with psychiatric symptoms.
Turk J Pediatr. 2014 Nov-Dec;56(6):651-3., [PubMed]
Sentences
No. Mutations Sentence Comment
8 ABCD1 p.Arg401Gln
X
ABCD1 p.Arg401Gln 26388597:8:38
status: NEW
view ABCD1 p.Arg401Gln details
 Genetic testing was performed and a p.R401Q (c.1202G>A) mutation detected in the ABCD1 gene. Login to comment 41 ABCD1 p.Arg401Gln
X
ABCD1 p.Arg401Gln 26388597:41:110
status: NEW
view ABCD1 p.Arg401Gln details
 To confirm the diagnosis of X-linked ALD, we analyzed the ABCD1 gene sequencing in the patient, revealing a p.R401Q (c.1202G>A) mutation. Login to comment