PMID: 22483867

Kemp S, Berger J, Aubourg P
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.
Biochim Biophys Acta. 2012 Sep;1822(9):1465-74. doi: 10.1016/j.bbadis.2012.03.012. Epub 2012 Mar 28., [PubMed]
Sentences
No. Mutations Sentence Comment
234 ABCD1 p.Asn13Thr
X
ABCD1 p.Asn13Thr 22483867:234:15
status: NEW
view ABCD1 p.Asn13Thr details
 The mutation p.Asn13Thr, for example, has been shown to represent a polymorphism, as this mutation did not affect the ability to compensate for the lack of functional ALDP after transfection [65]. Login to comment 241 ABCD1 p.Pro484Arg
X
ABCD1 p.Pro484Arg 22483867:241:206
status: NEW
view ABCD1 p.Pro484Arg details
 Another striking demonstration of the lack of a simple genotype-phenotype correlation is the presence of five different phenotypes in six male patients of a family with a destabilizing missense mutation, p.Pro484Arg [68]. Login to comment 247 ABCD1 p.Arg389His
X
ABCD1 p.Arg389His 22483867:247:65
status: NEW
view ABCD1 p.Arg389His details
 The affected members of this kindred carry a missense mutation p.Arg389His that results in stable ALDP correctly localized to peroxisomes. Login to comment