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Recent human germ-line mutation: inferences from patients with hemophilia B

Trends in Genetics, 1995
The 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, 1993
It 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
openaire   +1 more source

Sarcoma and germ-line DICER1 mutations – Authors’ reply

The Lancet Oncology, 2016
Mandy L, Ballinger, David M, Thomas
openaire   +2 more sources

PTEN germ-line mutations in juvenile polyposis coli

Nature Genetics, 1998
S, Olschwang   +3 more
openaire   +2 more sources

Germ-line P53 mutations and Li-Fraumeni syndrome

European Journal of Cancer, 1993
L. Brugières   +4 more
openaire   +1 more source

GLIOBLASTOMAS (GBMs) ASSOCIATED WITH GERM-LINE MUTATIONS IN hMLH1

Journal of Neuropathology and Experimental Neurology, 1996
Gibbons MC   +11 more
openaire   +1 more source

Germ line selection against point mutations in mitochondrial DNA

Mitochondrion, 2011
James B. Stewart⁎   +3 more
openaire   +1 more source

E-cadherin germ-line mutations in gastric cancer

European Biotechnology Newsletter, 1998
openaire   +1 more source

A BRCA2 germ-line mutation in familial pancreatic carcinoma

International Journal of Cancer, 2001
Karen White   +2 more
openaire   +1 more source

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