Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

Subjects

Subjects :

Amino Acid Sequence
Conserved Sequence
Cytoskeletal Proteins
DNA Mutational Analysis
Databases, Genetic
Family
Genetic Testing
Humans
Molecular Sequence Data
Phosphate-Binding Proteins
Racial Groups genetics
Bardet-Biedl Syndrome ethnology
Bardet-Biedl Syndrome genetics
Mutation
Proteins genetics
Proteins physiology

Details

Language :

English

ISSN :

1552-4833

Volume :

146A

Issue :

4

Database :

MEDLINE

Journal :

American journal of medical genetics. Part A

Publication Type :

Academic Journal

Accession number :

18203199

Full Text :

https://doi.org/10.1002/ajmg.a.32136