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

Jean Muller; C. Stoetzel; M. C. Vincent; C. C. Leitch; V. Laurier; J. M. Danse; S. Hellé; V. Marion; V. Bennouna-Greene; S. Vicaire; A. Megarbane; J. Kaplan; V. Drouin-Garraud; M. Hamdani; S. Sigaudy; C. Francannet; J. Roume; P. Bitoun; A. Goldenberg; N. Philip; S. Odent; J. Green; M. Cossée; E. E. Davis; N. Katsanis; D. Bonneau; A. Verloes; O. Poch; J. L. Mandel; H. Dollfus
Human Genetics · Vol. 127, Issue 5 · pp. 583-593 · 2010

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2010-05-01
Publication Year2010
Volume127
Issue5
Pages583-593
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-010-0804-9

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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