Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome.

López-Bigas, N

Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome. [electronic resource] - Human mutation 1999 - 520-6 p. digital

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

1059-7794

10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K doi


Amino Acid Sequence
Audiometry
Base Sequence
Carrier Proteins--genetics
Cochlea--abnormalities
DNA--genetics
Female
Genes, Recessive
Goiter--genetics
Hearing Loss, Sensorineural--congenital
Humans
Male
Membrane Transport Proteins
Mutation
Pedigree
Phenotype
RNA Splicing--genetics
Sulfate Transporters
Syndrome