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Title: Affymetrix SNP array data for family UNK-129-KW with multiple patients suffering from a lethal form of a primary immunodeficiency.      
keywords:
Variation
ID:
PRJNA338443
description:
Linkage analysis and Copy Number Variation were performed on DNA isolated from the peripheral blood of the 2 affected male patients, their unaffected parents, and their unaffected 4 male siblings, according to the manufacturer's description. This allowed to narrow down the region of homozygosity specifice to the patients. This approach, in combination with Whole Exome sequencing performed on DNA isolated from the 2 affected patients and their mother, allowed to identify a homozygous missense mutation in the base excision repair enzyme NEIL3 that reduced its enzymatic activity, and a homozygous duplication of exons 48-53 of the LPS Responsive Beige-Like Anchor Protein LRBA that abolished protein expression. Overall design: Homozygozity mapping was performed with the Affymetrix genome-wide human single nucleotide polymorphism (SNP) array 6.0, and analyzed with Birdsuite version 1.4 and PLINK version 1.07.
accesstypes:
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landingpage: http://www.ncbi.nlm.nih.gov/bioproject/PRJNA338443
authentication:
none
authorization:
none
ID:
pmid:27760045
name:
Homo sapiens
ncbiID:
ncbitax:9606
abbreviation:
NCBI
homePage: http://www.ncbi.nlm.nih.gov
ID:
SCR:006472
name:
National Center for Biotechnology Information
homePage: http://www.ncbi.nlm.nih.gov/bioproject
ID:
SCR:004801
name:
NCBI BioProject
  • RC2 HL102923/HL/NHLBI NIH HHS/United States

  • UC2 HL102926/HL/NHLBI NIH HHS/United States

  • UC2 HL103010/HL/NHLBI NIH HHS/United States

  • K08 AI114968/AI/NIAID NIH HHS/United States

  • UL1 TR001863/TR/NCATS NIH HHS/United States

  • RC2 HL102924/HL/NHLBI NIH HHS/United States

  • P01 AI061093/AI/NIAID NIH HHS/United States

  • R01 AI042269/AI/NIAID NIH HHS/United States

  • RC2 HL102925/HL/NHLBI NIH HHS/United States

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