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Recent human germ-line mutation: inferences from patients with hemophilia B
Trends in Genetics, 1995The gene encoding factor IX has a unique number of advantages for studying human germ-line mutations. Detailed analyses of the observed mutations of this gene, with special attention to the biases in the data, have provided information on mutational hotspots (including 'cryptic' dinucleotide repeats), mutation rates per base pair per generation, and ...
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Cancer risks from germ line tumor suppressor gene mutations.
Princess Takamatsu symposia, 1993It has been well established that sometimes cancer clusters within specific families. This has suggested the possibility that some of those families might carry genetic defects which provide susceptibility to specific cancers. Retinoblastoma, an embryonal tumor of the eye represents an extreme example of a tumor which has a dramatic genetic component ...
T, Frebourg, D, Malkin, S, Friend
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Sarcoma and germ-line DICER1 mutations – Authors’ reply
The Lancet Oncology, 2016Mandy L, Ballinger, David M, Thomas
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PTEN germ-line mutations in juvenile polyposis coli
Nature Genetics, 1998S, Olschwang +3 more
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Germ-line P53 mutations and Li-Fraumeni syndrome
European Journal of Cancer, 1993L. Brugières +4 more
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GLIOBLASTOMAS (GBMs) ASSOCIATED WITH GERM-LINE MUTATIONS IN hMLH1
Journal of Neuropathology and Experimental Neurology, 1996Gibbons MC +11 more
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Germ line selection against point mutations in mitochondrial DNA
Mitochondrion, 2011James B. Stewart⁎ +3 more
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E-cadherin germ-line mutations in gastric cancer
European Biotechnology Newsletter, 1998openaire +1 more source
A BRCA2 germ-line mutation in familial pancreatic carcinoma
International Journal of Cancer, 2001Karen White +2 more
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