Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associa...
Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Extensive phenotypic variability is commonly observed in individuals with Mendelian disorders, even among those with identical genotypes in the disease-causing gene. To determine whether variants within and surrounding
CFTR
contribute to phenotypic variability in cystic fibrosis (CF), we performed deep sequencing of
CFTR
in 762 patients...
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Full title
Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5121184
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5121184
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ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/hgv.2016.38
