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[The genetics and molecular genetics of X-chromosomal recessive ichthyosis].

作者信息

Herrmann F H

出版信息

Dermatol Monatsschr. 1989;175(4):197-202.

PMID:2659403
Abstract

X-linked ichthyosis has been shown to be associated with the deficiency of the steroid sulfatase/arylsulfatase C. The molecular biological results are reviewed concerning the localization of the steroid sulfatase gene to the distal short arm of the X chromosome and the molecular defects of this gene in patients of X-linked ichthyosis. The conclusions are summarized for genetic counselling, carrier detection and prenatal diagnosis.

摘要

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