Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect-Reference-Cited by-同舟云学术

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

Published:2006-02-22 Issue:4 Volume:14 Page:418-425
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Cossée Mireille,Demeer Bénédicte,Blanchet Patricia,Echenne Bernard,Singh Deepika,Hagens Olivier,Antin Manuela,Finck Sonja,Vallee Louis,Dollfus Hélène,Hegde Sridevi,Springell Kelly,Thelma B K,Woods Geoffrey,Kalscheuer Vera,Mandel Jean-Louis

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5201593.pdf

Reference30 articles.

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2. Frints SG, Froyen G, Marynen P, Fryns JP : X-linked MR: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms. Clin Genet 2002; 62: 423–432.

3. Chelly J, Mandel JL : Monogenic causes of X-linked MR. Nat Rev Genet 2001; 2: 669–680.

4. Mandel JL, Chelly J : Monogenic X-linked MR: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 2004; 12: 689–693.

5. Kalscheuer VM, Freude K, Musante L et al: Mutations in the polyglutamine binding protein 1 gene cause X-linked MR. Nat Genet 2003; 35: 313–315.

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