Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. [electronic resource]
- Human mutation Apr 2010
- 429-36 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.21204 doi
Alleles Amino Acid Sequence Bardet-Biedl Syndrome--genetics Base Sequence Conserved Sequence DNA Mutational Analysis Denmark Evolution, Molecular Female Genetic Association Studies Genotype Group II Chaperonins--chemistry Humans Inheritance Patterns--genetics Male Molecular Sequence Data Mutation--genetics Polymorphism, Single Nucleotide--genetics