Large genomic rearrangements in the CFTR gene contribute to CBAVD

BMC Medical Genetics

Volumn 8, Issue , 2007, Pages

  Taulan, Magali ^a,b,c   Girardet, Anne ^a,b,c   Guittard, Caroline ^c   Altieri, Jean Pierre ^c   Templin, Carine ^c   Beroud, Christophe ^a,b,c   des Georges, Marie ^a,c   Claustres, Mireille ^a,b,c  

^a INSERM   (France)

^b UNIV MONTPELLIER   (France)

^c HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BIOINFORMATICS; CLINICAL ARTICLE; CONGENITAL BILATERAL ABSCENCE OF THE VAS DEFERENS; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; DNA STRAND BREAKAGE; EXON; FLUORESCENCE ANALYSIS; GENE AMPLIFICATION; GENE DELETION; GENE LOCUS; GENE REARRANGEMENT; HETEROZYGOSITY; HUMAN; MALE; MALE GENITAL TRACT MALFORMATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; CONGENITAL MALFORMATION; GENETICS; METHODOLOGY; POINT MUTATION; VAS DEFERENS;

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; EXONS; GENE DELETION; GENE REARRANGEMENT; HUMANS; MALE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; VAS DEFERENS;

EID: 34249654482     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-8-22     Document Type: Article

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