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J Med Genet. 1993 Aug;30(8):651-4.

Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?

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1
Sub-Department of Clinical Genetics, University of Birmingham, Birmingham Maternity Hospital, Edgbaston, UK.

Abstract

A study of X inactivation in 12 female carriers for adrenoleucodystrophy showed no evidence that skewed patterns are related to clinical manifestation. Other possible mechanisms to explain manifestation in females are considered.

PMID:
8411051
PMCID:
PMC1016492
[Indexed for MEDLINE]
Free PMC Article
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