SNPs and real-time quantitative PCR method for constitutional allelic copy number determination, the VPREB1 marker case

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Frigerio, Marcello ^a   Passeri, Elena ^a,b   de Filippis, Tiziana ^c   Rusconi, Daniela ^c   Valaperta, Rea ^a   Carminati, Mario ^a   Donnangelo, Anita ^a   Costa, Elena ^a   Persani, Luca ^b,c   Finelli, Palma ^b,c   Corbetta, Sabrina ^a,b  

^a IRCCS POLICLINICO SAN DONATO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c ISTITUTO AUXOLOGICO ITALIANO   (Italy)

Author keywords

22q11.2 microdeletion; DiGeorge Syndrome; qRT PCR allelic copy number

Indexed keywords

PROTEIN; UNCLASSIFIED DRUG; VPREB1 PROTEIN; PRE B LYMPHOCYTE GENE 1 PROTEIN, HUMAN; PRE-B-LYMPHOCYTE GENE 1 PROTEIN, HUMAN; SURROGATE IMMUNOGLOBULIN LIGHT CHAIN;

ALLELE; ARTICLE; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE DOSAGE; GENE LOCATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MICRODELETION; PRESCHOOL CHILD; QUANTITATIVE REAL TIME POLYMERASE CHAIN REACTION; QUANTITATIVE STUDY; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; CHROMOSOME 22; CHROMOSOME DELETION; DIGEORGE SYNDROME; DNA SEQUENCE; EVALUATION; GENE FREQUENCY; GENETICS; METHODOLOGY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; DIGEORGE SYNDROME; FEMALE; GENE DOSAGE; GENE FREQUENCY; GENETIC TESTING; HEART DEFECTS, CONGENITAL; HUMANS; IMMUNOGLOBULIN LIGHT CHAINS, SURROGATE; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA;

EID: 79955570786     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-61     Document Type: Article

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