Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Author： Muller Jean   Stoetzel C.   Vincent M.   Leitch C.   Laurier V.   Danse J.   Hellé S.   Marion V.   Bennouna-Greene V.   Vicaire S.   Megarbane A.   Kaplan J.   Drouin-Garraud V.   Hamdani M.   Sigaudy S.   Francannet C.   Roume J.   Bitoun P.   Goldenberg A.   Philip N.   Odent S.   Green J.   Cossée M.   Davis E.   Katsanis N.   Bonneau D.   Verloes A.   Poch O.   Mandel J.   Dollfus H.  

Publisher： Springer Publishing Company

ISSN： 0340-6717

Source： Human Genetics, Vol.127, Iss.5, 2010-05, pp. : 583-593

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