Mutation analysis of SLC26A4 for pendred syndrome and nonsyndromic hearing loss by high-resolution melting

Journal of Molecular Diagnostics

Volumn 13, Issue 4, 2011, Pages 416-426

  Chen, Neng ^a   Tranebjærg, Lisbeth ^b,c   Rendtorff, Nanna Dahl ^c   Schrijver, Iris ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BISPEBJERG HOSPITAL   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMPLICON; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL LABORATORY; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; GOLD STANDARD; HEARING LOSS; HETEROZYGOSITY; HIGH RESOLUTION MELTING ANALYSIS; HOMOZYGOSITY; HUMAN; PENDRED SYNDROME; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; RELIABILITY; SLC26A4 GENE; WILD TYPE; GENETICS; MOLECULAR DIAGNOSIS; NODULAR GOITER; NUCLEOTIDE SEQUENCE; REPRODUCIBILITY; TRANSITION TEMPERATURE;

CARRIER PROTEIN; SLC26A4 PROTEIN, HUMAN;

DNA MUTATIONAL ANALYSIS; GOITER, NODULAR; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE TRANSPORT PROTEINS; MOLECULAR DIAGNOSTIC TECHNIQUES; REPRODUCIBILITY OF RESULTS; TRANSITION TEMPERATURE;

EID: 80054068647     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2011.03.003     Document Type: Article

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