Literature DB >> 9222765

Identification of a one-base germline deletion (codon 888 del C) and an intron splice acceptor site polymorphism in hMSH2.

J Swensen1, C M Lewis, L A Cannon-Albright.   

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Year:  1997        PMID： 9222765     DOI： 10.1002/(SICI)1098-1004(1997)10:1<80::AID-HUMU12>3.0.CO;2-W

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome.

Authors:  Eva Wielders; Elly Delzenne-Goette; Rob Dekker; Martin van der Valk; Hein Te Riele
Journal:  Fam Cancer       Date:  2017-04       Impact factor: 2.375

2.  A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome.

Authors:  Muhammad U Rashid; Humaira Naeemi; Noor Muhammad; Asif Loya; Muhammed A Yusuf; Jan Lubiński; Anna Jakubowska; Ute Hamann
Journal:  Hered Cancer Clin Pract       Date:  2016-07-12       Impact factor: 2.857
  2 in total

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