Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants
About this item
Full title
Author / Creator
Publisher
Switzerland: MDPI
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI
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Scope and Contents
Contents
Neurofibromatosis type 1 (NF1) is caused by heterozygous loss of function mutations in the
gene. Although patients are diagnosed according to clinical criteria and few genotype-phenotype correlations are known, molecular analysis remains important.
displays allelic heterogeneity, with a high proportion of variants affecting splicing, includin...
Alternative Titles
Full title
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7957615
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7957615
Other Identifiers
ISSN
2072-6694
E-ISSN
2072-6694
DOI
10.3390/cancers13050999
