Mutations inSNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome-Reference-Cited by-同舟云学术

Mutations inSNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro-Costo-Mandibular Syndrome

Published:2014-12-11 Issue:2 Volume:36 Page:187-190
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bacrot Séverine¹,Doyard Mathilde¹,Huber Céline¹,Alibeu Olivier²,Feldhahn Niklas³,Lehalle Daphné¹,Lacombe Didier⁴,Marlin Sandrine¹,Nitschke Patrick⁵,Petit Florence⁶,Vazquez Marie-Paule⁷,Munnich Arnold¹,Cormier-Daire Valérie¹

Affiliation:

1. Department of Genetics; INSERM U1163; Université Paris Descartes - Sorbonne Paris Cité; Institut Imagine; Hôpital Necker-Enfants Malades (AP-HP); Paris France

2. Plateforme de Génomique; Fondation IMAGINE; Paris France

3. Department of Medicine; Centre for Haematology; Imperial College London Hammersmith Campus; London UK

4. Service de Génétique Médicale; CHU Bordeaux; Laboratoire MRGM; Université de Bordeaux; Bordeaux France

5. Plateforme de Bioinformatique; Université Paris Descartes; Paris France

6. Service de Génétique Clinique; Hôpital J. de Flandre; Lille France

7. Service de chirurgie Maxillo-faciale et Plastique; Hôpital Necker-Enfants Malades (AP-HP); Université Paris-Descartes; Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome;Bernier;Am J Hum Genet,2012