Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Pat...
Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreatic status, lung function, microbial infection, body mass index (BMI), the presence of meconium ileus...
Alternative Titles
Full title
Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7600230
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7600230
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes11101137
