PMID: 23566833

Niu YF, Ni W, Wu ZY
ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy.
Gene. 2013 Jun 10;522(1):117-20. doi: 10.1016/j.gene.2013.03.067. Epub 2013 Apr 5., [PubMed]
Sentences
No. Mutations Sentence Comment
74 ABCD1 p.Pro560Leu
X
ABCD1 p.Pro560Leu 23566833:74:335
status: NEW
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ABCD1 p.Gly512Ser
X
ABCD1 p.Gly512Ser 23566833:74:293
status: NEW
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ABCD1 p.Arg554His
X
ABCD1 p.Arg554His 23566833:74:92
status: NEW
view ABCD1 p.Arg554His details
ABCD1 p.Arg518Gln
X
ABCD1 p.Arg518Gln 23566833:74:220
status: NEW
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ABCD1 p.Arg591Gln
X
ABCD1 p.Arg591Gln 23566833:74:368
status: NEW
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ABCD1 p.Gly343Val
X
ABCD1 p.Gly343Val 23566833:74:187
status: NEW
view ABCD1 p.Gly343Val details
 Exon Nucleotide change Amino acid change Phenotype P1 None None None CCALD P2 7 c.1661G>A p.Arg554His CCALD P3 5 c.1477_1488 + 11del 23 p.Leu493_Arg496del Adolescent ALD P4 2 c.1028G>T p.Gly343Val CCALD P5 6 c.1553G>A p.Arg518Gln CCALD P6 5 c.1415_16delAG p.Gln472fsX83 CCALD P7 6 c.1534G>A p.Gly512Ser Adolescent ALD P8 7 c.1679C>T p.Pro560Leu CCALD P9 7 c.1772G>A p.Arg591Gln ACALD P10 5 c.1415_16delAG p.Gln472fsX83 ACALD Fig. 1. Login to comment