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Journal article

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

Abstract:

Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal malformation syndrome characterized by renal cystic dysplasia, central nervous system malformations (typically, posterior occipital encephalocele), and hepatic developmental defects. Two MKS genes, MKS1 and MKS3, have been identified recently. The present study describes the cellular, sub-cellular and functional characterization of the novel proteins, MKS1 and meckelin, encoded by these genes. In situ hybridization studies for MKS3...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddl459

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Institution:
University of Oxford
Department:
Oxford, MSD, Pathology Dunn School
Role:
Author
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Journal:
Human molecular genetics
Volume:
16
Issue:
2
Pages:
173-186
Publication date:
2007-01-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:ffb74aff-eaaf-4463-83ca-ae07e15f41b1
Source identifiers:
27549
Local pid:
pubs:27549

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