Characterization of two deletions of the CTRC locus

Molecular Genetics and Metabolism

Volumn 109, Issue 3, 2013, Pages 296-300

  Masson, Emmanuelle ^a,b   Hammel, Pascal ^c   Garceau, Cécile ^d   Bénech, Caroline ^a,e   Quéméner Redon, Sylvia ^a,b   Chen, Jian Min ^a,e,f   Férec, Claude ^a,b,e,f  

^a INSERM   (France)

^b CHU MORVAN   (France)

^c BEAUJON HOSPITAL   (France)

^d CENTRE HOSPITALIER PRINCESSE GRACE   (Monaco)

^e ETABLISSEMENT FRANÇAIS DU SANG   (France)

^f FACULTÉ DE MÉDECINE ET DES SCIENCES DE LA SANTÉ   (France)

Author keywords

Chronic pancreatitis; Copy number mutation; CTRC; Genetics; Genotype phenotype relationship; Pathogenesis

Indexed keywords

CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; ARTICLE; CASE REPORT; CHRONIC PANCREATITIS; CONSANGUINEOUS MARRIAGE; CTRC GENE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; EXON; GENE; GENE DELETION; GENE LOCUS; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; POINT MUTATION; PORTAL HYPERTENSION; PORTAL VEIN THROMBOSIS; PRIORITY JOURNAL; PRSS1 GENE; SPINK1 GENE; YOUNG ADULT;

EID: 84891371383     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.04.022     Document Type: Article

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