A nonsense mutation inCEP55defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy-Reference-Cited by-同舟云学术

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A nonsense mutation inCEP55defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy

Published:2017-05-03 Issue:5 Volume:92 Page:510-516
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Bondeson M.-L.¹,Ericson K.¹²,Gudmundsson S.¹,Ameur A.¹,Pontén F.¹,Wesström J.³⁴,Frykholm C.¹,Wilbe M.¹^ORCID

Affiliation:

1. Department of Immunology, Genetics and Pathology; Uppsala University, Science for Life Laboratory; Uppsala Sweden

2. Department of Pathology and Cytology; Uppsala University Hospital; Uppsala Sweden

3. Center for Clinical Research Dalarna; Falun Sweden

4. Department of Women's and Children's Health; Uppsala University; Uppsala Sweden

Funder

Marcus Borgströms Foundation

Magnus Bergvalls Foundation

Stiftelsen Lars Hiertas Minne

Kungliga Fysiografiska Sällskapet i Lund

Uppsala Universitet

Svenska Sällskapet för Medicinsk Forskning

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13012/fullpdf

Reference50 articles.

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

2. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination;Otto;Nat Genet,2003

3. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome;Ansley;Nature,2003

4. Proteomic characterization of the human centrosome by protein correlation profiling;Andersen;Nature,2003

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

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