Emqn best practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the dfnb1 locus

European Journal of Human Genetics

Volumn 21, Issue 11, 2013, Pages 1325-1329

  Hoefsloot, Lies H ^a   Roux, Anne Françoise ^b,c,d   Bitner Glindzicz, Maria ^e  

^a RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^b MONTPELLIER UNIVERSITY HOSPITAL   (France)

^c INSERM   (France)

^d UNIV MONTPELLIER   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 30;

AMINO ACID SEQUENCE; CONFERENCE PAPER; DFNB1 GENE; DIAGNOSTIC VALUE; EXON; GENE; GENE LOCUS; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

CONNEXINS; DEAFNESS; EUROPE; GENETIC LOCI; GENETIC TESTING; HUMANS; MOLECULAR BIOLOGY; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PRACTICE GUIDELINES AS TOPIC; SEQUENCE DELETION;

EID: 84885916330     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.83     Document Type: Conference Paper

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