Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82

American Journal of Human Genetics

Volumn 87, Issue 1, 2010, Pages 90-94

  Walsh, Tom ^a   Shahin, Hashem ^b   Elkan Miller, Tal ^c   Lee, Ming K ^a   Thornton, Anne M ^a   Roeb, Wendy ^a   Abu Rayyan, Amal ^b   Loulus, Suheir ^b   Avraham, Karen B ^c   King, Mary Claire ^a   Kanaan, Moien ^b  

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

^b BETHLEHEM UNIVERSITY   (Palestine)

^c TEL AVIV UNIVERSITY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CELL PROTEIN; COMPLEMENTARY RNA; GUANINE NUCLEOTIDE BINDING PROTEIN; LEUCYLGLYCYLASPARAGINE REPEAT ENRICHED PROTEIN; POLYPEPTIDE; PROTEIN GPSM2; UNCLASSIFIED DRUG; GPSM2 PROTEIN, HUMAN; SIGNAL PEPTIDE;

ADOLESCENT; ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELL POLARITY; CHILD; CLINICAL ARTICLE; COCHLEA; CONTROLLED STUDY; EVOKED BRAIN STEM RESPONSE; EXON; FAMILY STUDY; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC POLYMORPHISM; GENOME; GENOMICS; HAIR CELL; HEARING LOSS; HUMAN; INNER EAR; MALE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN MOTIF; TETRATRICOPEPTIDE REPEAT; UTRICLE; ANIMAL; CONSANGUINITY; EMBRYO DEVELOPMENT; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; GENETICS; HOMOZYGOTE; METABOLISM; MUTATION; STOP CODON;

ANIMALS; CELL POLARITY; CODON, NONSENSE; CONSANGUINITY; EMBRYONIC DEVELOPMENT; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC ASSOCIATION STUDIES; HAIR CELLS, AUDITORY; HEARING LOSS; HOMOZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MICE; MUTATION;

EID: 77955084820     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.05.010     Document Type: Article

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