Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84

Journal of Medical Genetics

Volumn 47, Issue 9, 2010, Pages 643-645

  Shahin, Hashem ^a   Rahil, Michael ^b   Rayan, Amal Abu ^a   Avraham, Karen B ^c   King, Mary Claire ^d   Kanaan, Moien ^a   Walsh, Tom ^d  

^a BETHLEHEM UNIVERSITY   (Palestine)

^b Dar Al Kalima Health and Wellness Center   (Palestine)

^c TEL AVIV UNIVERSITY   (Israel)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE RECEPTOR Q; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CHROMOSOME 12Q; CONSANGUINITY; CONTROLLED STUDY; DFNB84 GENE; FAMILIAL DISEASE; GENE; GENE IDENTIFICATION; GENE SEQUENCE; HAPLOTYPE; HEARING LOSS; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PALESTINE; PRIORITY JOURNAL; PTPRQ GENE; RELATIVE;

ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CILIA; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC LOCI; HEARING LOSS; HUMANS; INHERITANCE PATTERNS; MALE; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; PEDIGREE; RECEPTOR-LIKE PROTEIN TYROSINE PHOSPHATASES, CLASS 3;

EID: 77956099474     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.075697     Document Type: Article

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