ArticleIndian journal of gastroenterology : official journal of the Indian Society of Gastroenterology2018
PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype.
Article in Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- The Epidemiology of PRSS1 Hereditary Pancreatitis and Its Clinical Implications: A Systematic Review.Pancreas · 2026Pooled it
- Multidisciplinary treatment of chronic active Epstein-Barr virus infection with multiple complications: a case report.Translational pediatrics · 2021Article
- Pancreas Divisum Increases the Risk of Recurrent Acute Pancreatitis in Patients with rs12338 Polymorphism in the Cathepsin B Gene.Digestive diseases and sciences · 2021Article
- Progression of recurrent acute to chronic pancreatitis: More questions than answers!Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2018Article
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Authors and funding
6 authors at 1 institution in 1 country.
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Abstract
Mutations in PRSS1 gene namely R122H and N29I cause hereditary pancreatitis. They are autosomal dominant with a high penetrance (80%) reported in North American, North-east Asian, and North European ethnicities. However, the mutations are reportedly absent in Indian, African, and South American ethnicities. We report here for the first time a family from India that is positive for R122H mutation in the PRSS1 gene. The proband is symptomatic with chronic pancreatitis, however, the father although heterozygous for R122H is asymptomatic.
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