Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Journal of Medical Genetics

Volumn 48, Issue 11, 2011, Pages 767-775

  Schultz, Julie M ^a   Bhatti, Rashid ^b   Madeo, Anne C ^c   Turriff, Amy ^d   Muskett, Julie A ^c   Zalewski, Christopher K ^c   King, Kelly A ^c   Ahmed, Zubair M ^e   Riazuddin, Saima ^e   Ahmad, Nazir ^b   Hussain, Zawar ^b   Qasim, Muhammad ^b   Kahn, Shaheen N ^b   Meltzer, Meira R ^d   Liu, Xue Z ^f   Munisamy, Murali ^g   Ghosh, Manju ^g   Rehm, Heidi L ^h,i   Tsilou, Ekaterini T ^d,j   Griffith, Andrew J ^c   Zein, Wadih M ^d   Brewer, Carmen C ^c   Riazuddin, Sheikh ^b,k   Friedman, Thomas B ^a   more..

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c NATIONAL INSTITUTES OF HEALTH   (United States)

^d NATIONAL EYE INSTITUTE   (United States)

^e CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^h LABORATORY FOR MOLECULAR MEDICINE   (United States)

ⁱ BRIGHAM AND WOMEN S HOSPITAL   (United States)

^j EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^k ALLAMA IQBAL MEDICAL COLLEGE   (Pakistan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN 23;

ALLELE; AREFLEXIA; ARTICLE; CDH23 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DFNB12 GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; USH1D GENE; USHER SYNDROME; VESTIBULAR DISORDER; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; ASYMPTOMATIC DISEASES; CADHERINS; CHILD; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; RETINA; RETINITIS PIGMENTOSA; UNITED STATES; USHER SYNDROMES; VESTIBULE, LABYRINTH;

EID: 81055156086     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100262     Document Type: Article

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