ABCMdb

PMID: 18206987

Engelen M, Ofman R, Mooijer PA, Poll-The BT, Wanders RJ, Kemp S
Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy.
Biochim Biophys Acta. 2008 Mar;1781(3):105-11. Epub 2007 Dec 28., [PubMed]

Sentences

No. Mutations Sentence Comment

63 ABCD1 p.Leu220Pro The clinical phenotype of the patient, the ABCD1 mutation and the effect of the mutation on ALDP expression by means of immunofluorescence were: ALD005 (AMN, Ser290X, absent); ALD009 (AMN, fsGlu471, absent); ALD011 (Addison-only, Arg464X, absent); ALD013 (AMN, Met1Val, absent) and ALD014 (AMN, Leu220Pro, reduced). Login to comment 65 ABCD1 p.Leu220Pro The clinical phenotype of the patient, the ABCD1 mutation and the effect of the mutation on ALDP expression by means of immunofluorescence were: ALD005 (AMN, Ser290X, absent); ALD009 (AMN, fsGlu471, absent); ALD011 (Addison-only, Arg464X, absent); ALD013 (AMN, Met1Val, absent) and ALD014 (AMN, Leu220Pro, reduced). Login to comment