IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Aldahmesh, Mohammed A

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. [electronic resource] - Human molecular genetics Jun 2014 - 3307-15 p. digital

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

1460-2083

10.1093/hmg/ddu044 doi


Adolescent
Amino Acid Sequence
Animals
Bardet-Biedl Syndrome--enzymology
Consanguinity
Evolution, Molecular
Exome
Female
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
Male
Models, Molecular
Monomeric GTP-Binding Proteins--chemistry
Pedigree
Point Mutation
Saudi Arabia
Sequence Alignment
Zebrafish