Multiplex ligation-dependent probe amplification (MLPA) screening for exon copy number variation in the calcium sensing receptor gene: No large rearrangements identified in patients with calcium metabolic disorders

Clinical Endocrinology

Volumn 72, Issue 6, 2010, Pages 758-762

  Nissen, Peter H ^a   Christensen, Signe E ^a   Wallace, Andrew ^b   Heickendorff, Lene ^a   Brixen, Kim ^c   Mosekilde, Leif ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b ST MARY S HOSPITAL   (United Kingdom)

^c ODENSE UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM SENSING RECEPTOR;

ALU SEQUENCE; ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; ELECTROLYTE DISTURBANCE; EXON; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; FAMILIAL ISOLATED HYPOPARATHYROISM; FAMILY HISTORY; GENE REARRANGEMENT; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; EVALUATION STUDY; GENE TRANSLOCATION; GENETIC RECOMBINATION; GENETIC SCREENING; GENETICS; LIGASE CHAIN REACTION; PHYSIOLOGY; POLYMERASE CHAIN REACTION; PROCEDURES;

CALCIUM METABOLISM DISORDERS; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; EXONS; GENETIC TESTING; HUMANS; LIGASE CHAIN REACTION; POLYMERASE CHAIN REACTION; RECEPTORS, CALCIUM-SENSING; RECOMBINATION, GENETIC; TRANSLOCATION, GENETIC;

EID: 77952639375     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2009.03750.x     Document Type: Article

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