Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by obesity, polydactyly, retinal dystrophy, and renal disease. The significant genetic and clinical heterogeneity of this condition have substantially hindered efforts to positionally clone the numerous BBS ge...

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Auteurs principaux: Beales, Philip L., Katsanis, Nicholas, Lewis, Richard A., Ansley, Stephen J., Elcioglu, Nursel, Raza, Jamal, Woods, Michael O., Green, Jane S., Parfrey, Patrick S., Davidson, William S., Lupski, James R.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2001
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274474/
https://ncbi.nlm.nih.gov/pubmed/11179009
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