Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome-Reference-Cited by-同舟云学术

Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome

Published:2014-06-10 Issue:6 Volume:15 Page:10350-10364
ISSN:1422-0067
Container-title:International Journal of Molecular Sciences
language:en
Short-container-title:IJMS

Author:

Teresa-Rodrigo María,Eckhold Juliane,Puisac Beatriz,Dalski Andreas,Gil-Rodríguez María,Braunholz Diana,Baquero Carolina,Hernández-Marcos María,de Karam Juan,Ciero Milagros,Santos-Simarro Fernando,Lapunzina Pablo,Wierzba Jolanta,Casale César,Ramos Feliciano,Gillessen-Kaesbach Gabriele,Kaiser Frank,Pié Juan

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

Link

http://www.mdpi.com/1422-0067/15/6/10350/pdf

Reference38 articles.

1. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

2. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B;Krantz;Nat. Genet.,2004

3. Cohesin, a chromatin engagement ring

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

5. Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

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