Analysis of the complete coding region of the CFTR gene in ten Algerian cystic fibrosis families
… Cystic Fibrosis Genetic Analysis Consortium: Population variation of common cystic fibrosis
… : Geographic distribution and regional origin of 272 cystic fibrosis mutations in European pop…
… : Geographic distribution and regional origin of 272 cystic fibrosis mutations in European pop…
… of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site …
P Fanen, N Ghanem, M Vidaud, C Besmond, J Martin… - Genomics, 1992 - Elsevier
… We have used this method to scan the whole coding region and splice junctions of 61 non-…
in this study of all the coding region and flanking sequences, in addition to the 225 …
in this study of all the coding region and flanking sequences, in addition to the 225 …
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR
MB Sheridan, TW Hefferon, N Wang, C Merlo… - Journal of medical …, 2011 - jmg.bmj.com
… To determine if any of the patients with only one mutation identified in the coding region of
CFTR had a second mutation in a non-coding region that affected expression of CFTR RNA, …
CFTR had a second mutation in a non-coding region that affected expression of CFTR RNA, …
Non-coding RNA in cystic fibrosis
AMA Glasgow, C De Santi… - Biochemical Society …, 2018 - portlandpress.com
… Cystic fibrosis (CF) is a single gene disorder. Although it is a … The primary cause of CF is a
defect in the cystic fibrosis … evidence for important roles for non-coding RNAs (ncRNAs) in the …
defect in the cystic fibrosis … evidence for important roles for non-coding RNAs (ncRNAs) in the …
Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis
C Castellani, M Gomez Lira, L Frulloni… - Human …, 2001 - Wiley Online Library
Many Cystic Fibrosis (CF) carriers have been detected testing some subjects with chronic
pancreatititis for a limited number of mutations. The aim of this study was to find out if some …
pancreatititis for a limited number of mutations. The aim of this study was to find out if some …
Cystic fibrosis gene
A Harris - British medical bulletin, 1992 - academic.oup.com
… Coding region The coding region of Ch'lR is made up of 27 exons, numbered 1 to 24, but
including 6a and 6b, 14a and 14b, 17a and 17b (Fig. 1). Most of these are between 50 and …
including 6a and 6b, 14a and 14b, 17a and 17b (Fig. 1). Most of these are between 50 and …
The cystic fibrosis gene: a molecular genetic perspective
LC Tsui, R Dorfman - Cold Spring Harbor …, 2013 - perspectivesinmedicine.cshlp.org
… have been primarily concentrated in the coding regions, including at most the immediate
flanking intronic regions. Third, mutations in regulatory regions may only affect the expression …
flanking intronic regions. Third, mutations in regulatory regions may only affect the expression …
Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium.
CS Chu, BC Trapnell, JJ Murtagh Jr, J Moss… - The EMBO …, 1991 - embopress.org
… coded by exons 9-12 and 19-23 of the 27 exon cystic fibrosis transmembrane conductance
regulator (CFTR) gene contain two putative nucleotide-binding fold regions. … 8-exon 9 region …
regulator (CFTR) gene contain two putative nucleotide-binding fold regions. … 8-exon 9 region …
Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits
B Vecchio-Pagán, SM Blackman, M Lee… - Human genome …, 2016 - nature.com
… This study’s initial goal was to determine if a coding region variant might moderate the
deleterious effect of the F508del allele. We found that neither a single common variant nor a …
deleterious effect of the F508del allele. We found that neither a single common variant nor a …
… epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.
CS Chu, BC Trapnell, SM Curristin… - The Journal of …, 1992 - Am Soc Clin Investig
… Cystic fibrosis (CF) is a recessive hereditary disorder, requiring both parental cystic fibrosis
… missing exon 9, a region representing 21% of the sequence coding for the critical nucleotide (…
… missing exon 9, a region representing 21% of the sequence coding for the critical nucleotide (…
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