Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity-Reference-Cited by-同舟云学术

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity

Published:2006-06-23 Issue:2 Volume:120 Page:211-226
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Eichers Erica R.,Abd-El-Barr Muhammad M.,Paylor Richard,Lewis Richard Alan,Bi Weimin,Lin Xiaodi,Meehan Thomas P.,Stockton David W.,Wu Samuel M.,Lindsay Elizabeth,Justice Monica J.,Beales Philip L.,Katsanis Nicholas,Lupski James R.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-006-0197-y.pdf

Reference70 articles.

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2. Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N (2003a) 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, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N (2003b) Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 12:1651–1659

4. Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N (2006) Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature 439:326–330

5. Barnett S, Reilly S, Carr L, Ojo I, Beales PL, Charman T (2002) Behavioural phenotype of Bardet-Biedl syndrome. J Med Genet 39:e76

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