DFNB16 is a frequent cause of congenital hearing impairment: Implementation of STRC mutation analysis in routine diagnostics

Clinical Genetics

Volumn 87, Issue 1, 2015, Pages 49-55

  Vona, B ^a   Hofrichter, M A H ^a   Neuner, C ^a   Schroder J ^a   Gehrig, A ^a   Hennermann, J B ^b   Kraus, F ^c   Shehata Dieler, W ^c   Klopocki, E ^a   Nanda, I ^a   Haaf, T ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

Chromosome 15q15.3; Congenital hearing impairment; Deafness infertility syndrome (DIS); DFNB16; Non syndromic hearing loss (NSHL); STRC

Indexed keywords

ARTICLE; CHILD; COHORT ANALYSIS; CONGENITAL DEAFNESS; CONTROLLED STUDY; COPY NUMBER VARIATION; DFNB16 GENE; FEMALE; GENE; GENE FREQUENCY; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MEMBRANE DEPOLARIZATION; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; PERCEPTION DEAFNESS; PRESCHOOL CHILD; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; STRC GENE; DNA MUTATIONAL ANALYSIS; DNA SEQUENCE; GENE DELETION; GENETICS; HEARING LOSS, SENSORINEURAL; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PROCEDURES; PSEUDOGENE; REAL TIME POLYMERASE CHAIN REACTION;

MEMBRANE PROTEIN; PRIMER DNA; STRC PROTEIN, HUMAN;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; GENE FREQUENCY; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE PROTEINS; MICROARRAY ANALYSIS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOGENES; REAL-TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84919430517     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12332     Document Type: Article

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