Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease-Reference-Cited by-同舟云学术

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

Published:2010-02-23 Issue:5 Volume:127 Page:583-593
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Muller Jean,Stoetzel C.,Vincent M. C.,Leitch C. C.,Laurier V.,Danse J. M.,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. E.,Katsanis N.,Bonneau D.,Verloes A.,Poch O.,Mandel J. L.,Dollfus H.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-010-0804-9.pdf

Reference41 articles.

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2. Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (2003) Identification of a novel Bardet–Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet 72:650–658

3. Badano JL, Mitsuma N, Beales PL, Katsanis N (2006) The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 7:125–148

4. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet–Biedl syndrome: results of a population survey. J Med Genet 36:437–446

5. Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC (2004) Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet–Biedl syndrome (BBS3). Am J Hum Genet 75:475–484

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