A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss

Clinical Genetics

Volumn 81, Issue 3, 2012, Pages 289-293

  Yariz, K O ^a   Walsh, T ^b   Akay, H ^c   Duman, D ^d   Akkaynak, A C ^c   King, M C ^b   Tekin, M ^a,d  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c Veni Vidi Hospital   (Turkey)

^d ANKARA UNIVERSITY   (Turkey)

Author keywords

Autosomal recessive; Deafness; Genome wide SNP genotyping; GPSM2; Hearing loss; Homozygosity

Indexed keywords

G PROTEIN SIGNALING MODULATOR 2; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL HETEROGENEITY; CHROMOSOME 1P; DISEASE ASSOCIATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HEARING LOSS; HOMOZYGOSITY; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN FUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

CONSANGUINITY; FEMALE; GENES, RECESSIVE; GENOTYPE; HEARING LOSS; HOMOZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TURKEY;

EID: 84856450722     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01654.x     Document Type: Article

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