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Germ-Line Mutation

Known as: Hereditary Mutation, Mutation, Germline, Mutations, Germ-Line 
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes… 
National Institutes of Health

Related topics

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3 relations
Germline Mutation Abnormalityaspects of radiation effectsphysiological aspects

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2002
Highly Cited
2002
Evidence of haplotype insufficiency in human cells containing a germline mutation in BRCA1 or BRCA2
The BRCA1 and BRCA2 gene products are thought to play important roles in the processing of DNA damage. To assess whether… 
Highly Cited
2000
Highly Cited
2000
Elevated frequency and functional activity of a specific germ-line p53 intron mutation in familial breast cancer.
Previous studies have determined that the frequency of germ-line p53 mutations in familial breast cancer patients is 1% or less… 
Highly Cited
2000
Highly Cited
2000
Germline DNA: Wheat mutation rate after Chernobyl
The accident at the Chernobyl nuclear power plant in 1986 has generated concern over the genetic consequences of chronic exposure… 
Highly Cited
1999
Highly Cited
1999
CDKN2A (P16INK4a) and CDK4 mutation analysis in 131 Australian melanoma probands: Effect of family history and multiple primary melanomas
Mutation analysis of two genes involved in melanoma susceptibility (CDKN2A/p16INK4a and CDK4) was undertaken in 131 probands with… 
Highly Cited
1999
Highly Cited
1999
Clustered microsatellite mutations in the pipefish Syngnathus typhle.
Clustered mutations are copies of a mutant allele that enter a population's gene pool together due to replication from a… 
Review
1997
Review
1997
The von Hippel-Lindau tumor suppressor gene. A rare and intriguing disease opening new insight into basic mechanisms of carcinogenesis.
Highly Cited
1996
Highly Cited
1996
Germ line mutation at BRCA1 affects the histoprognostic grade in hereditary breast cancer.
Histoprognostic grade is a determinant parameter to select the initial therapeutic strategy in breast cancer. Our aim was to… 
Highly Cited
1995
Highly Cited
1995
Constitutional p53 mutations associated with brain tumors in young adults.
Highly Cited
1989
Highly Cited
1989
Analysis of somatic mutations at human minisatellite loci in tumors and cell lines.
Review
1975
Review
1975
The role of DNA repair and somatic mutation in carcinogenesis.
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