Deafness heterogeneity in a Druze isolate from the Middle East: Novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus

European Journal of Human Genetics

Volumn 8, Issue 6, 2000, Pages 437-442

  Adato, Avital ^c   Raskin, Leonid ^c   Petit, Christine ^a   Bonne Tamir, Batsheva ^b  

^a CNRS   (France)

^b TEL AVIV UNIVERSITY   (Israel)

^c NONE

Author keywords

Deafness; DFNB9; Mutation; OTOF; Pendred syndrome; Pendrin

Indexed keywords

ISOLEUCINE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME MARKER; CLINICAL ARTICLE; CONGENITAL DEAFNESS; DELETION MUTANT; DOMINANT INHERITANCE; GENE LOCUS; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MARRIAGE; MIDDLE EAST; PENDRED SYNDROME; POPULATION GENETICS; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

CARRIER PROTEINS; CONSANGUINITY; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; GOITER; HUMANS; ISRAEL; MALE; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SYNDROME;

EID: 0034039614     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200489     Document Type: Article

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