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Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder, the primary features of which include obesity, retinal dystrophy, polydactyly, hypogenitalism, learning difficulties, and renal malformations. Conventional linkage and positional cloning have led to the mapping of six BBS loci in t...

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Bibliographische Detailangaben
Hauptverfasser: Badano, José L., Ansley, Stephen J., Leitch, Carmen C., Lewis, Richard Alan, Lupski, James R., Katsanis, Nicholas
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2003
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180240/
https://ncbi.nlm.nih.gov/pubmed/12567324
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