Identification and functional characterization of novel compound heterozygotic mutations in the TECTA gene

Gene

Volumn 492, Issue 1, 2012, Pages 239-243

  Sagong, Borum ^a   Park, Hong Joon ^b   Lee, Kyu Yup ^c   Kim, Un Kyung ^a  

^a Kyungpook National University   (South Korea)

^b Soree Ear Clinic   (South Korea)

^c Kyungpook National University School of Medicine   (South Korea)

Author keywords

Gene; Mutation; Nonsyndromic sensorineural hearing loss; Splicing; TECTA

Indexed keywords

ALPHA TECTORIN; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CASE REPORT; EXON; FAMILY HISTORY; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; TECTA GENE;

CHILD, PRESCHOOL; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GPI-LINKED PROTEINS; HEARING LOSS; HETEROZYGOTE; HUMANS; MUTATION; PEDIGREE;

EID: 84155195104     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2011.10.022     Document Type: Article

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