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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

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Germline Mutation Abnormalityaspects of radiation effectsphysiological aspects

Papers overview

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2016
2016
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism
The coexistence of mutations in the dual oxidase maturation factor 2 (DUOXA2) and dual oxidase 2 (DUOX2) genes is rarely… 
2004
2004
One less thing to worry about: the shrinking spectrum of tumors in BRCA founder mutation carriers.
Defining the spectrum of disease associated with germline mutations in cancer susceptibility genes can be a difficult business… 
2000
2000
Low frequency of microsatellite instability inBRCA1 mutated breast tumours
Editor— BRCA1 is one of the major breast and ovarian cancer susceptibility genes. Many studies have suggested that the BRCA1… 
1998
1998
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.
Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis caused by mutations in the… 
1998
1998
Using gene carrier probability to select high risk families for identifying germline mutations in breast cancer susceptibility genes.
Germline mutations in highly penetrant autosomal dominant genes explain about 5% of all breast cancer, and heritable mutations in… 
Review
1997
Review
1997
Screening for CDKN2A mutations in hereditary melanoma.
Cutaneous malignant melanoma (CMM) is a potentially fatal form of skin cancer whose etiology is heterogeneous and complex… 
1997
1997
Differential effects of retroviral long terminal repeats on interleukin-3 gene expression and autocrine transformation
Previously we documented the transposition of an intracisternal A particle (IAP) provirus to the interleukin 3 (IL-3) locus which… 
1995
1995
Loh and mutation analysis of CDKN2 in primary human ovarian cancers
The CDKN2 gene encodes a cell cycle regulatory protein and is located on chromosome 9p21, a region deleted in a wide variety of… 
1994
1994
Radiation induction of germline mutation at a hypervariable mouse minisatellite locus
1972
1972
A study of spontaneous mutation rates at ten loci detectable by starch gel electrophoresis in Drosophila melanogaster.
Spontaneous mutation rates at ten allozyme loci on chromosomes II and III of Drosophila melanogaster were studied. Over the three…