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1.
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Int J Mol Sci
; 22(14)2021 Jul 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-34299313
2.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet
; 24(18): 5345-55, 2015 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-26130695
3.
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin.
Eur J Hum Genet
; 21(2): 154-61, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22781090
4.
MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.
Tumori
; 97(5): 676-80, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22158503
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