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Mutational analysis of ATP8B1 in patients with chronic pancreatitis
Wendy L. Van Der Woerd
, Désirée Y. Van Haaften-Visser
, Stan F.J. Van De Graaf
, Claude Férec
, Emmanuelle Masson
, Janneke M. Stapelbroek
, Peter Bugert
,
Heiko Witt
, Roderick H.J. Houwen
Associate Professorship of Paediatric Nutritional Medicine
Wilhelmina Children's Hospital University Medical Center Utrecht
University Medical Center Utrecht
Service de Génétique
INSERM U70
Heidelberg University
Technical University of Munich
Research output
:
Contribution to journal
›
Article
›
peer-review
11
Scopus citations
Overview
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Keyphrases
Mutational Analysis
100%
Chronic Pancreatitis
100%
ATP8B1
100%
Non-coding Sequence
33%
Direct Sequencing
16%
Synonymous Variant
16%
Genetic Causes
16%
Associated Genes
16%
Nonsynonymous
16%
Exon
16%
Multiple Variants
16%
Control Subjects
16%
Healthy Controls
16%
Allele Frequency
16%
General Functioning
16%
High Incidence
16%
Chymotrypsin
16%
Pancreas
16%
Pancreatitis
16%
Idiopathic Pancreatitis
16%
Coding Exons
16%
SPINK1
16%
Exonic
16%
Membrane Organization
16%
PRSS1
16%
Cationic Trypsinogen
16%
Pancreatic Secretory Trypsin Inhibitor
16%
Background mutations
16%
Biochemistry, Genetics and Molecular Biology
ATP8B1
100%
Exon
33%
Deficiency
33%
Genetics
16%
Membrane Topology
16%
SPINK1
16%
Gene Frequency
16%
Trypsinogen
16%
Aprotinin
16%
Chymotrypsinogen
16%