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Nature Genetics 38, 521–524 (1 May 2006) |
doi:10.1038/ng1771
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Corinne Stoetzel
,
Virginie Laurier
,
Erica E Davis
,
Jean Muller
,
Suzanne Rix
,
Jos|[eacute]| L Badano
,
Carmen C Leitch
,
Nabiha Salem
,
Eliane Chouery
,
Sandra Corbani
,
Nadine Jalk
,
Serge Vicaire
,
Pierre Sarda
,
Christian Hamel
,
Didier Lacombe
,
Muriel Holder
,
Sylvie Odent
,
Susan Holder
,
Alice S Brooks
,
Nursel H Elcioglu
,
Eduardo D Silva
,
B|[eacute]|atrice Rossillion
,
Sabine Sigaudy
,
Thomy J L de Ravel
,
Richard Alan Lewis
,
Bruno Leheup
,
Alain Verloes
,
Patrizia Amati-Bonneau
,
Andr|[eacute]| M|[eacute]|garban|[eacute]|
,
Olivier Poch
,
Dominique Bonneau
,
Philip L Beales
,
Jean-Louis Mandel
,
Nicholas Katsanis
&
H|[eacute]|l|[egrave]|ne Dollfus
Abstract
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40–50% of the total mutational load.
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