ISSN:
1546-1718
Quelle:
Nature Archives 1869 - 2009
Thema:
Biologie
,
Medizin
Notizen:
[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 ...
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1038/ng2039
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