Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Bardet–Biedl syndrome (BBS) is a rare, primarily autosomal-recessive ciliopathy. The phenotype of this pleiotropic disease includes retinitis pigmentosa, postaxial polydactyly, truncal obesity, learning disabilities, hypogonadism and renal anomalies, among others. To date, mutations in 15 genes (BBS...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Janssen, Sabine, Ramaswami, Gokul, Davis, Erica E., Hurd, Toby, Airik, Rannar, Kasanuki, Jennifer M., Van Der Kraak, Lauren, Allen, Susan J., Beales, Philip L., Katsanis, Nicholas, Otto, Edgar A., Hildebrandt, Friedhelm
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2010
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3646619/
https://ncbi.nlm.nih.gov/pubmed/21052717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-010-0902-8
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