A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

Clinical Genetics

Volumn 78, Issue 3, 2010, Pages 267-274

  Wilch, E ^a   Azaiez, H ^b   Fisher, R A ^c   Elfenbein, J ^a   Murgia, A ^d   Birkenhager R ^e   Bolz, H ^f   da Silva Costa, S M ^g   del Castillo, I ^h,i   Haaf, T ^j   Hoefsloot, L ^k   Kremer, H ^k,l   Kubisch, C ^f   Le Marechal, C ^m   Pandya, A ⁿ   Sartorato, E L ^g   Schneider, E ^j   Van Camp, G ^o   Wuyts, W ^o   Smith, R J H ^b   Friderici, K H ^c,p   more..

^a MICHIGAN STATE UNIVERSITY   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c MICHIGAN STATE UNIVERSITY   (United States)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY OF FREIBURG   (Germany)

^f UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^g UNIVERSITY OF CAMPINAS   (Brazil)

^h HOSPITAL RAMÓN Y CAJAL   (Spain)

ⁱ CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^j JOHANNES GUTENBERG UNIVERSITY   (Germany)

^k RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^l RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^m UNIVERSITÉ EUROPÉENNE DE BRETAGNE   (France)

ⁿ VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^o ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^p NONE   (United States)

more..

Author keywords

Connexin 26; Connexin 30; DFNB1; Gene expression regulation; GJB2; GJB6; Sensorineural hearing loss; Sequence deletion

Indexed keywords

CONNEXIN 26; CONNEXIN 30; MESSENGER RNA; PROTEIN; PROTEIN DFNB1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CHROMOSOME 13; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; GENE DELETION; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE MUTATION; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROMOTER REGION; TRANSCRIPTION INITIATION SITE;

ALLELES; BASE SEQUENCE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; COMPARATIVE GENOMIC HYBRIDIZATION; CONNEXINS; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION; GENETIC TESTING; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PENETRANCE; REGULATORY SEQUENCES, NUCLEIC ACID; SEQUENCE DELETION; SEQUENCE HOMOLOGY, NUCLEIC ACID;

EID: 77952717704     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01387.x     Document Type: Article

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