ISSN:
1546-1718
Source:
Nature Archives 1869 - 2009
Topics:
Biology
,
Medicine
Notes:
[Auszug] Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of developmental autosomal recessive disorders that are associated with primary cilium dysfunction. Using SNP mapping, we identified missense and truncating mutations in ...
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1038/ng2039
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