MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years

BACKGROUND: Lynch syndrome, is an autosomal dominantly inherited disease that predisposes individuals to a high risk of colorectal cancers, and some mismatch-repair genes have been identified as causative genes. The purpose of this study was to investigate the genomic rearrangement of the gene in a...

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Detalles Bibliográficos
Autores principales: Momma, Tomoyuki, Gonda, Kenji, Akama, Yoshinori, Endo, Eisei, Ujiie, Daisuke, Fujita, Shotaro, Maejima, Yuko, Horita, Shoichiro, Shimomura, Kenju, Saji, Shigehira, Kono, Koji, Yashima, Rei, Watanabe, Fumiaki, Sugano, Kokichi, Nomizu, Tadashi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498505/
https://www.ncbi.nlm.nih.gov/pubmed/31046708
http://dx.doi.org/10.1186/s12881-019-0792-0

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