Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

Hjortshøj, Tina Duelund

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