Literature DB >> 10801389

High frequency of cystic fibrosis transmembrane regulator mutation L997F in patients with recurrent idiopathic pancreatitis and in newborns with hypertrypsinemia.

M G Benetazzo, M G Marzari, C Bombieri, F Belpinati, C Castellani, G C Cavallini, G Mastella, P F Pignatti.   

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Year:  2000        PMID： 10801389      PMCID： PMC1378065          DOI： 10.1086/302928

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  4 in total

1.  Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?

Authors:  Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá
Journal:  J Assist Reprod Genet       Date:  2022-01-29       Impact factor: 3.412

Review 2.  Pancreatic cancer risk in hereditary pancreatitis.

Authors:  Frank U Weiss
Journal:  Front Physiol       Date:  2014-02-20       Impact factor: 4.566

3.  Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report.

Authors:  Tinatin Tkemaladze; Eka Kvaratskhelia; Mariam Ghughunishvili; Michael J Lentze; Elene Abzianidze; Volha Skrahina; Arndt Rolfs
Journal:  Respir Med Case Rep       Date:  2022-10-05

4.  Cystic fibrosis presenting as recurrent pancreatitis in a young child with a normal sweat test and pancreas divisum: a case report.

Authors:  Laurie Conklin; Pamela L Zeitlin; Carmen Cuffari
Journal:  J Med Case Rep       Date:  2008-05-23
  4 in total

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