EVIDENCE FOR PREFERENTIAL X-CHROMOSOME INACTIVATION IN A FAMILY WITH FABRY DISEASE
- 1 January 1977
- journal article
- research article
- Vol. 29 (4) , 361-370
Abstract
Severe clinical signs of Fabry''s disease were observed in 4 of 8 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.This publication has 12 references indexed in Scilit:
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