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Am J Hum Genet. 1977 Jul;29(4):361-70.

Evidence for preferential X-chromosome inactivation in a family with Fabry disease.

Abstract

Severe clinical signs of Fabry disease were observed in four of eight heterozygous daughters of a male patient. Activities of alpha-galactosidase A in serum, white blood cells, and hair roots of the manifesting carriers were markedly lower than 50% of normal. These findings are not easy to interpret in terms of random X inactivation alone; several alternative models including nonrandom (preferential) X inactivation are discussed.

PMID:
406783
PMCID:
PMC1685395
[Indexed for MEDLINE]
Free PMC Article

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