Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.-Reference-Cited by-同舟云学术

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

Published:1996-08-01 Issue:8 Volume:33 Page:682-688
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Redonnet-Vernhet I,Ploos van Amstel J K,Jansen R P,Wevers R A,Salvayre R,Levade T

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference46 articles.

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3. The sex chromosomes and X chromosome inactivation;Willard, H.F.,1995

4. Different patterns of X inactivation in MZ twins discordant for redgreen color-vision deficiency;Jorgensen, A.L.; Philip, J.; Raskind, W.H.;Am JT Hum Genet,1992

5. Female twin with Hunter disease due to nonrandom inactivation of the X chromosome: a consequence of twinning;Winchester, B.; Young, E.; Geddes, S.;Am JMed Genet,1992

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