Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome-Reference-Cited by-同舟云学术

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

Published:2011-07 Issue:1 Volume:89 Page:94-110
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Dowdle William E.,Robinson Jon F.,Kneist Andreas,Sirerol-Piquer M. Salomé,Frints Suzanna G.M.,Corbit Kevin C.,Zaghloul Norran A.,van Lijnschoten Gesina,Mulders Leon,Verver Dideke E.,Zerres Klaus,Reed Randall R.,Attié-Bitach Tania,Johnson Colin A.,García-Verdugo José Manuel,Katsanis Nicholas,Bergmann Carsten,Reiter Jeremy F.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference89 articles.

1. The ciliopathies: An emerging class of human genetic disorders;Badano;Annu. Rev. Genomics Hum. Genet.,2006

2. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome;Kyttälä;Nat. Genet.,2006

3. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes;Valente;Nat. Genet.,2010

4. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat;Smith;Nat. Genet.,2006

5. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome;Frank;Hum. Mutat.,2008

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