Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 6, 2003, Pages 2916-2921

  Borck, Guntram ^a   Roth, Christian ^b   Martiné, Ursula ^a   Wildhardt, Gabriele ^a   Pohlenz, Joachim ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC IDENTIFICATION; GENOTYPE; GERMANY; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; PENDRED SYNDROME; PRIORITY JOURNAL; TURKEY (REPUBLIC);

EID: 0038578135     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021334     Document Type: Article

References (39)

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