A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss

Genomics

Volumn 104, Issue 4, 2014, Pages 264-270

  Du, Wan ^a,b   Cheng, Jing ^b   Ding, Hui ^a   Jiang, Zhengwen ^c   Guo, Yufen ^a   Yuan, Huijun ^b  

^a LANZHOU UNIVERSITY   (China)

^b CHINESE PLA GENERAL HOSPITAL   (China)

^c Genesky Biotechnologies Inc   (China)

Author keywords

Gene mutation; GJB2; MT RNR1; Nonsyndromic hearing loss; SLC26A4

Indexed keywords

CONNEXIN 26; PENDRIN; CARRIER PROTEIN; GAP JUNCTION PROTEIN; RIBOSOME RNA; RNA, RIBOSOMAL, 12S; SLC26A4 PROTEIN, HUMAN;

ARTICLE; ASSAY; CONTROLLED STUDY; COST CONTROL; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENETIC PROCEDURES; GENETIC SCREENING; GENOTYPE; GJB2 GENE; HEARING IMPAIRMENT; HETEROZYGOTE; HIGH THROUGHPUT SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; MT RNR1 GENE; MUTATIONAL ANALYSIS; RAPID TEST; SINGLE NUCLEOTIDE POLYMORPHISM; SLC26A4 GENE; SNPSCAN ASSAY TECHNIQUE; CHILD; GENETICS; INFANT; MUTATION; PRESCHOOL CHILD; PROCEDURES;

CHILD; CHILD, PRESCHOOL; CONNEXINS; DEAFNESS; FEMALE; GENETIC TESTING; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, RIBOSOMAL;

EID: 84908230478     PISSN: 08887543     EISSN: 10898646     Source Type: Journal    
DOI: 10.1016/j.ygeno.2014.07.009     Document Type: Article

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