In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing

Hao Wu; Arnaud Boulling; David N Cooper; Zhao-Shen Li; Zhuan Liao; Jian-Min Chen; Claude Férec

doi:10.1136/gutjnl-2017-313948

In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing

Gut. 2017 Dec;66(12):2195-2196. doi: 10.1136/gutjnl-2017-313948. Epub 2017 Mar 20.

Authors

Hao Wu^{1

2

3

4}, Arnaud Boulling^{2

3}, David N Cooper⁵, Zhao-Shen Li^{1

4}, Zhuan Liao^{1

4}, Jian-Min Chen^{2

3

6}, Claude Férec^{2

3

6

7}

Affiliations

¹ Department of Gastroenterology, Changhai Hospital, the Second Military Medical University, Shanghai, China.
² Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.
³ Etablissement Français du Sang (EFS)-Bretagne, Brest, France.
⁴ Shanghai Institute of Pancreatic Diseases, Shanghai, China.
⁵ Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
⁶ Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), Brest, France.
⁷ Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Centre Hospitalier Universitaire (CHU) Brest, Hôpital Morvan, Brest, France.

PMID: 28320769
DOI: 10.1136/gutjnl-2017-313948

No abstract available

Keywords: CHRONIC PANCREATITIS; GENE MUTATION; GENETICS; GENOTYPE.

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Genetic Predisposition to Disease
Genotype
Humans
Mutation
Pancreatitis
Pancreatitis, Chronic
RNA Precursors*
Trypsin Inhibitor, Kazal Pancreatic / genetics*

Substances

RNA Precursors
Trypsin Inhibitor, Kazal Pancreatic