Mutations and variants in the cohesion factor genesNIPBL,SMC1A, andSMC3in a cohort of 30 unrelated patients with Cornelia de Lange syndrome-Reference-Cited by-同舟云学术

Mutations and variants in the cohesion factor genesNIPBL,SMC1A, andSMC3in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

Published:2010-04 Issue:4 Volume:152A Page:924-929
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pié Juan,Gil-Rodríguez María Concepción,Ciero Milagros,López-Viñas Eduardo,Ribate María Pilar,Arnedo María,Deardorff Matthew A.,Puisac Beatriz,Legarreta Jesús,de Karam Juan Carlos,Rubio Encarnación,Bueno Inés,Baldellou Antonio,Calvo Mª Teresa,Casals Nuria,Olivares José Luis,Losada Ana,Hegardt Fausto G.,Krantz Ian D.,Gómez-Puertas Paulino,Ramos Feliciano J.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

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3. Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation;Deardorff;Am J Hum Genet,2007

4. Pfam: Clans, web tools and services;Finn;Nucleic Acids Res,2006

5. Functional links between Drosophila Nipped-B and cohesin in somatic and meiotic cells;Gause;Chromosoma,2008

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