A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort

Genetics in Medicine

Volumn 9, Issue 7, 2007, Pages 413-426

  Putcha, Girish V ^a   Bejjani, Bassem A ^b   Bleoo, Stacey ^c   Booker, Jessica K ^d   Carey, John C ^e   Carson, Nancy ^f   Das, Soma ^g   Dempsey, Melissa A ^g   Gastier Foster, Julie M ^h   Greinwald Jr , John H ⁱ   Hoffmann, Marcy L ^b   Jeng, Linda Jo Bone ^j   Kenna, Margaret A ^k   Khababa, Ishrag ^a   Lilley, Margaret ^l   Mao, Rong ^m   Muralidharan, Kasinathan ^n,u   Otani, Iris M ^a   Rehm, Heidi L ^k,o   Schaefer, Fred ^p   Seltzer, William K ^q   Spector, Elaine B ^r   Springer, Michelle A ^s   Weck, Karen E ^d   Wenstrup, Richard J ^i,t,v   Withrow, Stacey ^k   Wu, Bai Lin ^k   Zariwala, Maimoona A ^d   Schrijver, Iris ^a   more..

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SACRED HEART MEDICAL CENTER   (United States)

^c UNIVERSITY OF ALBERTA   (Canada)

^d UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^f CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^g UNIVERSITY OF CHICAGO   (United States)

^h THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

ⁱ CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^j CASE WESTERN RESERVE UNIVERSITY   (United States)

^k BOSTON CHILDREN S HOSPITAL   (United States)

^l UNIVERSITY OF ALBERTA HOSPITAL   (Canada)

^m ARUP LABORATORIES   (United States)

ⁿ EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o BRIGHAM AND WOMEN S HOSPITAL   (United States)

^p HA Chapman Institute   (United States)

^q ATHENA DIAGNOSTICS INC   (United States)

^r Children's Hospital Colorado   (United States)

^s NATIONWIDE CHILDREN S HOSPITAL   (United States)

^t UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^u QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^v Myriad Genetic Laboratories   (United States)

more..

Author keywords

Connexin; Deafness; GJB2; GJB6; Hearing loss

Indexed keywords

GAP JUNCTION PROTEIN;

ARTICLE; CLINICAL TRIAL; ETHNIC DIFFERENCE; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GJB2 GENE; GJB6 GENE; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTICENTER STUDY; MUTATION RATE; NORTH AMERICA;

CANADA; CONNEXINS; FEMALE; GENE FREQUENCY; GENETIC DISEASES, INBORN; HEARING LOSS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LONGITUDINAL STUDIES; MALE; MUTATION; QUANTITATIVE TRAIT LOCI; UNITED STATES;

EID: 34547683596     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3180a03276     Document Type: Article

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