SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

Anwar, Saima

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis. [electronic resource] - Journal of human genetics May 2009 - 266-70 p. digital

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

1435-232X

10.1038/jhg.2009.21 doi


Abnormalities, Multiple--genetics
Amino Acid Sequence
Case-Control Studies
Chromosomes, Human, Pair 7--genetics
Deafness--complications
Exons--genetics
Genetic Predisposition to Disease
Haplotypes--genetics
Homozygote
Humans
Membrane Transport Proteins--chemistry
Microsatellite Repeats--genetics
Molecular Sequence Data
Mutation--genetics
Pakistan--ethnology
Physical Chromosome Mapping
Polymorphism, Single Nucleotide--genetics
Sequence Alignment
Sulfate Transporters
Syndrome