Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus

American Journal of Medical Genetics, Part A

Volumn 143, Issue 14, 2007, Pages 1623-1629

  Meyer, Nicole C ^a   Alasti, Fatemeh ^b   Nishimura, Carla J ^a   Imanirad, Parisa ^c   Kahrizi, Kimia ^c   Riazalhosseini, Yasser ^c   Malekpour, Mahdi ^c   Kochakian, Nafiseh ^c   Jamali, Payman ^c   Van Camp, Guy ^b   Smith, Richard J H ^a   Najmabadi, Hossein ^c  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

Author keywords

Autosomal recessive nonsyndromic hearing loss; DFNB21; Moderate to severe hearing loss; TECTA

Indexed keywords

ADENINE; CYTOSINE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DFNB21 GENE; DISEASE SEVERITY; EXON; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC SCREENING; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; IRAN; KNOCKOUT MOUSE; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PHENOTYPE; PRIORITY JOURNAL; STOP CODON; TECTA GENE;

AUDIOMETRY; BASE SEQUENCE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; FAMILY HEALTH; GENES, RECESSIVE; GENOTYPE; HEARING LOSS, SENSORINEURAL; IRAN; MEMBRANE GLYCOPROTEINS; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 34447260934     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31718     Document Type: Article

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