Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction

Genetic Testing and Molecular Biomarkers

Volumn 14, Issue 4, 2010, Pages 505-510

  Zvereff, Val ^a   Yao, Suxia ^a   Ramsey, Julia ^a   Mikhail, Fady M ^a   Vijzelaar, Raymon ^b   Messiaen, Ludwine ^a  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b MRC HOLLAND   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROCYSTIN;

ARTICLE; CLINICAL ARTICLE; EXON; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; KIDNEY POLYCYSTIC DISEASE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; OPEN READING FRAME; POLYMERASE CHAIN REACTION; SCREENING;

COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA PROBES; EXONS; FEMALE; GENE DOSAGE; GENETIC TESTING; HUMANS; MALE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYCYSTIC KIDNEY, AUTOSOMAL RECESSIVE; POLYMERASE CHAIN REACTION; RECEPTORS, CELL SURFACE; SEQUENCE DELETION; TIME FACTORS;

EID: 77955878100     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0188     Document Type: Article

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