Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. [electronic resource]
Producer: 20010830Description: 403-11 p. digitalISSN:- 1098-1004
- 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
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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.
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