Campbell, C

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. [electronic resource] - Human mutation May 2001 - 403-11 p. digital

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

1098-1004

10.1002/humu.1116 doi


Abnormalities, Multiple--genetics
Alleles
Blotting, Southern
Carrier Proteins--genetics
Child
Child, Preschool
DNA Mutational Analysis
Deafness--genetics
Exons--genetics
Family
Genes, Recessive--genetics
Genetic Testing
Genotype
Humans
Infant
Membrane Transport Proteins
Mutation--genetics
Mutation, Missense--genetics
Phenotype
Sulfate Transporters
Syndrome
Temporal Bone--abnormalities
Vestibular Aqueduct--abnormalities