Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: Implications for genetic testing

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Genes, Chromosomes and Cancer

• Publication date

  2001-05-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/gcc.1122PMID 11284041
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Evidence of a founder BRCA1 mutation in Scotland

  2000influential reference
• Familial predisposition to breast cancer in a British population: implications for prevention.

  2000cited by this paper
• Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia.

  1997cited by this paper
• Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

  1996cited by this paper
• Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities

  1996cited by this paper
• Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation

  1995cited by this paper
• The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

  1995cited by this paper
• A human BRCA1 gene knockout

  1995influential reference

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  2014cites this paper
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  2009cites this paper
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  2006influential citation
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  2006cites this paper
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