Badano, Jose L

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. [electronic resource] - Human molecular genetics Jul 2003 - 1651-9 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

0964-6906

10.1093/hmg/ddg188 doi


Bardet-Biedl Syndrome--genetics
Epistasis, Genetic
Female
Group II Chaperonins
Humans
Male
Microtubule-Associated Proteins
Molecular Chaperones--genetics
Mutation
Pedigree
Proteins--genetics