PMID: 18834860

Maier EM, Mayerhofer PU, Asheuer M, Kohler W, Rothe M, Muntau AC, Roscher AA, Holzinger A, Aubourg P, Berger J
X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.
Biochem Biophys Res Commun. 2008 Dec 5;377(1):176-80. Epub 2008 Oct 1., [PubMed]
Sentences
No. Mutations Sentence Comment
28 ABCD1 p.Pro484Arg
X
ABCD1 p.Pro484Arg 18834860:28:200
status: NEW
view ABCD1 p.Pro484Arg details
 To test this hypothesis, we performed sequencing and segregation analyses of ABCD2 within a large X-ALD family, affected by different X-ALD phenotypes but carrying the identical mutated ABCD1 allele (P484R) [16]. Login to comment 32 ABCD1 p.Pro484Arg
X
ABCD1 p.Pro484Arg 18834860:32:61
status: NEW
view ABCD1 p.Pro484Arg details
 In all hemizygote brothers and the female carrier, the same (P484R) and no other mutation has been identified in the ABCD1 gene [16]. Login to comment 60 ABCD1 p.Pro484Arg
X
ABCD1 p.Pro484Arg 18834860:60:68
status: NEW
view ABCD1 p.Pro484Arg details
 In all affected brothers and the female carrier, the same mutation (P484R) and no other mutation has been identified in the ABCD1 gene. Login to comment