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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Bibliographic Details
- Journal:
- Human molecular genetics
- Volume:
- 16
- Issue:
- 2
- Pages:
- 173-186
- Publication date:
- 2007-01-01
- DOI:
- EISSN:
-
1460-2083
- ISSN:
-
0964-6906
- Source identifiers:
-
27549
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:27549
- UUID:
-
uuid:ffb74aff-eaaf-4463-83ca-ae07e15f41b1
- Local pid:
- pubs:27549
- Deposit date:
- 2012-12-19
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- Copyright date:
- 2007
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