Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 1, 1999, Pages 336-341

  Kopp, Peter ^a   Karamanoglu Arseven, O ^a   Sabacan, L ^a   Kotlar, T ^a   Dupuis, Josée ^b,d   Cavaliere, H ^c   Santos, C L S ^c   Jameson, J L ^a   Medeiros Neto, G ^c  

^a NORTHWESTERN UNIVERSITY   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d GENOME THERAPEUTICS CORPORATION   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SULFATE;

ALLELE; ARTICLE; BRAZIL; CLINICAL ARTICLE; DNA SEQUENCE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; GOITER; HOMOZYGOSITY; HUMAN; INBREEDING; MOLECULAR CLONING; PEDIGREE ANALYSIS; PENDRED SYNDROME; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; THYROID HORMONE BLOOD LEVEL;

ADULT; BRAZIL; CARRIER PROTEINS; DEAFNESS; DNA; FEMALE; GENOTYPE; GOITER; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; SYNDROME;

EID: 0032957770     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.1.336     Document Type: Article

References (32)

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