r122h mutation
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PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype

Indian Journal of Gastroenterology ◽

10.1007/s12664-018-0828-y ◽

2018 ◽

Vol 37 (1) ◽

pp. 67-69 ◽

Cited By ~ 3

Author(s):

Urmila Steffie Avanthi ◽

Govardhan Bale ◽

Mohsin Aslam ◽

Rupjyoti Talukdar ◽

Nageshwar Reddy Duvvur ◽

...

Keyword(s):

Indian Family ◽

R122h Mutation

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The Differential Role of Human Cationic Trypsinogen (PRSS1) R122H Mutation in Hereditary and Non-Hereditary Chronic Pancreatitis: Systematic Review and Meta-Analysis

Gastroenterology ◽

10.1016/s0016-5085(17)32551-9 ◽

2017 ◽

Vol 152 (5) ◽

pp. S734

Author(s):

Cheng Hu ◽

Li Wen ◽

Lihui Deng ◽

Chenlong Zhang ◽

Aurelia Lugea ◽

...

Keyword(s):

Systematic Review ◽

Chronic Pancreatitis ◽

Meta Analysis ◽

Cationic Trypsinogen ◽

Hereditary Chronic Pancreatitis ◽

R122h Mutation

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Tu1463 The R122H Mutation Stabilizes the PRSS1 Protein in Pancreatitis

Gastroenterology ◽

10.1016/s0016-5085(16)33076-1 ◽

2016 ◽

Vol 150 (4) ◽

pp. S908

Author(s):

Clement Boinot ◽

Inna Sabirzhanova ◽

William Guggino ◽

Liudmila Cebotaru

Keyword(s):

R122h Mutation

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Haplotyp-Analyse der in Norddeutschland häufigen PRSS1 R122H Mutation: Keine Indizien für einen „Founder-Effekt“

Zeitschrift für Gastroenterologie ◽

10.1055/s-2006-950727 ◽

2006 ◽

Vol 44 (08) ◽

Author(s):

FU Weiss ◽

M Zenker ◽

P Simon ◽

MM Lerch

Keyword(s):

R122h Mutation

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A 93 year old man with the PRSS1 R122H mutation, low SPINK1 expression, and no pancreatitis: insights into phenotypic non-penetrance

Gut ◽

10.1136/gut.2005.067959 ◽

2006 ◽

Vol 55 (5) ◽

pp. 728-731 ◽

Cited By ~ 34

Author(s):

A Khalid

Keyword(s):

R122h Mutation

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Non-penetrance of the hereditary pancreatitis (HP) phenotype in a patient with the R122H mutation: The role of pancreatic secretory trypsin inhibitor (SPINK1/PSTI)

Gastroenterology ◽

10.1016/s0016-5085(08)81694-0 ◽

2001 ◽

Vol 120 (5) ◽

pp. A340

Author(s):

Asif Khalid ◽

Bryan S. Thompson

Keyword(s):

Trypsin Inhibitor ◽

Hereditary Pancreatitis ◽

Pancreatic Secretory Trypsin Inhibitor ◽

R122h Mutation

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Non-penetrance of the hereditary pancreatitis (HP) phenotype in a patient with the R122H mutation: The role of pancreatic secretory trypsin inhibitor (SPINK1/PSTI)

Gastroenterology ◽

10.1016/s0016-5085(01)81694-2 ◽

2001 ◽

Vol 120 (5) ◽

pp. A340-A340

Author(s):

A KHALID ◽

B THOMPSON

Keyword(s):

Trypsin Inhibitor ◽

Hereditary Pancreatitis ◽

Pancreatic Secretory Trypsin Inhibitor ◽

R122h Mutation

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A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis

Journal of Medical Genetics ◽

10.1136/jmg.37.11.e36 ◽

2000 ◽

Vol 37 (11) ◽

pp. 36e-36 ◽

Cited By ~ 27

Author(s):

J.-M. CHEN

Keyword(s):

Gene Conversion ◽

Cationic Trypsinogen ◽

R122h Mutation ◽

Cat Gene

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