Identification of rare and frequent variants of the CASR gene by high-resolution melting

Clinica Chimica Acta

Volumn 413, Issue 5-6, 2012, Pages 605-611

  Nissen, Peter H ^a   Christensen, Signe E ^a   Ladefoged, Søren A ^a   Brixen, Kim ^b   Heickendorff, Lene ^a   Mosekilde, Leif ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Bioinformatics; Calcium sensing receptor; Familial hypocalciuric hypercalcemia; Familial isolated hypoparathyroidism; Genotyping; High resolution melting

Indexed keywords

GENOMIC DNA;

AMINO ACID SUBSTITUTION; AMPLICON; ANALYTIC METHOD; ARTICLE; BIOINFORMATICS; CALCIUM SENSING RECEPTOR GENE; CLINICAL DECISION MAKING; COMPUTER PROGRAM; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DNA SEQUENCE; EXON; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; FAMILIAL ISOLATED HYPOPARATHYROIDISM; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; INTERMETHOD COMPARISON; MAJOR CLINICAL STUDY; METABOLIC DISORDER; NUCLEOTIDE SEQUENCE; ONLINE ANALYSIS; PREDICTIVE VALUE; PRIORITY JOURNAL; RECEPTOR GENE; VALIDATION STUDY;

COMPUTATIONAL BIOLOGY; GENETIC TESTING; GENETIC VARIATION; HUMANS; RECEPTORS, CALCIUM-SENSING; TRANSITION TEMPERATURE;

EID: 84856216358     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2011.12.004     Document Type: Article

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