Mutation of the XNP/ATR-X Gene in a Family with Severe Mental Retardation, Spastic Paraplegia and Skewed Pattern of X Inactivation: Demonstration that the Mutation is Involved in the Inactivation Bias-Reference-Cited by-同舟云学术

Mutation of the XNP/ATR-X Gene in a Family with Severe Mental Retardation, Spastic Paraplegia and Skewed Pattern of X Inactivation: Demonstration that the Mutation is Involved in the Inactivation Bias

Published:1999-08 Issue:2 Volume:65 Page:558-562
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lossi A.M.,Millán J.M.,Villard L.,Orellana C.,Cardoso C.,Prieto F.,Fontés M.,Martínez F.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference14 articles.

1. Abidi F, Carpenter NJ, Villard L, Curtis M, Fontès M, Schwartz CE. The Carpenter-Waziri syndrome results from a mutation in XNP. Am J Med Genet (in press)

2. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation;Billuart;Nature,1998

3. Specific interaction between the XNP/ATR-X gene product and the set domain of the human EZH2 protein;Cardoso;Hum Mol Genet,1998

4. Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 (Xq13.3);Gecz;Hum Mol Genet,1994

5. Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X);Gibbons;Am J Med Genet,1995

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