In silico prioritization and further functional characterization of SPINK1 intronic variants

In silico prioritization and further functional characterization of SPINK1 intronic variants

Abstract Background SPINK1 (serine protease inhibitor, kazal-type, 1), which encodes human pancreatic secretory trypsin inhibitor, is one of the most extensively studied genes underlying chronic pancreatitis. Recently, based upon data from qualitative reverse transcription-PCR (RT-PCR) analyses of t...

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Bibliographic Details
Main Authors: Wen-Bin Zou, Hao Wu, Arnaud Boulling, David N. Cooper, Zhao-Shen Li, Zhuan Liao, Jian-Min Chen, Claude Férec
Format: Article
Language:English
Published: BMC 2017-05-01
Series:Human Genomics
Subjects:
Aberrant mRNA transcripts
Chronic pancreatitis
In silico
Intronic variants
Non-canonical splice sites
Quantitative RT-PCR analysis
Online Access:http://link.springer.com/article/10.1186/s40246-017-0103-9

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http://link.springer.com/article/10.1186/s40246-017-0103-9

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