Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 2, 2012, Pages 315-321

  Lee, Kwanghyuk ^a   Ansar, Muhammad ^b   Andrade, Paula B ^a   Khan, Bushra ^b   Santos Cortez, Regie Lyn P ^a   Ahmad, Wasim ^b   Leal, Suzanne M ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

Autosomal recessive non sydromic hearing loss; Claudin 14; CLDN14; Pakistan

Indexed keywords

CLAUDIN; CLAUDIN 14; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS; CHROMOSOME 21Q; CHROMOSOME MAP; CLDN14 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL DISEASE; GENE; GENE MUTATION; GENETIC LINKAGE; GENETIC RISK; HEARING LOSS; HUMAN; NONSENSE MUTATION; PAKISTAN; PRIORITY JOURNAL; PROTEIN DOMAIN; STOP CODON;

CLAUDINS; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; HEARING LOSS; HUMANS; MALE; MUTATION; PAKISTAN; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84862798837     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34407     Document Type: Article

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