Two frequent missense mutations in Pendred syndrome

Human Molecular Genetics

Volumn 7, Issue 7, 1998, Pages 1099-1104

  Van Hauwe, Peter ^a   Everett, Lorraine A ^b   Coucke, Paul ^a   Scott, Daryl A ^c   Kraft, Michelle L ^c   Ris Stalpers, Carrie ^d   Bolder, Cuny ^e   Otten, Barto ^e   De Vijlder, Jan J M ^d   Dietrich, Nicole L ^b   Ramesh, Arabandi ^g   Srisailapathy, Srikumari C R ^g   Parving, Agnete ^f   Cremers, Cor W R J ^e   Willems, Patrick J ^a   Smith, Richard J H ^c   Green, Eric D ^b   Van Camp, Guy ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f BISPEBJERG HOSPITAL   (Denmark)

^g UNIVERSITY OF MADRAS   (India)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 7Q; CONTROLLED STUDY; FEMALE; GENE MAPPING; GENE MUTATION; GOITER; HEARING IMPAIRMENT; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PENDRED SYNDROME; PRIORITY JOURNAL;

ADOLESCENT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GOITER; HAPLOTYPES; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; SYNDROME;

EID: 7144253130     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.7.1099     Document Type: Article

References (18)

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