Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)

Human Molecular Genetics

Volumn 9, Issue 11, 2000, Pages 1709-1715

  Scott, Daryl A ^a   Wang, Rong ^b   Kreman, Trisha M ^b   Andrews, Mike ^a   McDonald, Joshua M ^b   Bishop, Jeffrey R ^a   Smith, Richard J H ^b   Karniski, Lawrence P ^b   Sheffield, Val C ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CHLORIDE; GENE PRODUCT; IODIDE; MEMBRANE PROTEIN; PENDRIN; UNCLASSIFIED DRUG;

ADULT; ANION TRANSPORT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHLORIDE TRANSPORT; CHROMOSOME 7Q; GENE MUTATION; GOITER; HEARING LOSS; HUMAN; PENDRED SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; THYROID GLAND; VESTIBULE AQUEDUCT;

EID: 0034235222     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.11.1709     Document Type: Article

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