Pages that link to "Q67468876"

The following pages link to Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes (Q67468876):

Displaying 21 items.

• Mutations at arginine 352 alter the pore architecture of CFTR. (Q36776120) (← links)
• Human cystic fibrosis embryonic stem cell lines derived on placental mesenchymal stromal cells (Q39834364) (← links)
• Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis (Q41038949) (← links)
• Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. (Q41665365) (← links)
• Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene (Q42038231) (← links)
• Mutation analysis in 600 French cystic fibrosis patients (Q42659215) (← links)
• Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis. (Q52665388) (← links)
• Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy. (Q53476375) (← links)
• Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. (Q53748040) (← links)
• Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14) (Q57304761) (← links)
• Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories (Q58020445) (← links)
• Indictment of pore behaviour (Q59032130) (← links)
• Multi-ion pore behaviour in the CFTR chloride channel (Q59073236) (← links)
• Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations (Q61633016) (← links)
• Simultaneous detection of fourteen Italian cystic fibrosis mutations in seven exons by reverse dot-blot analysis (Q70920350) (← links)
• Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations (Q71604175) (← links)
• Identification of rare and novel mutations in the CFTR genes of CF patients in southern England (Q71625725) (← links)
• Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium (Q71670536) (← links)
• Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations (Q71686481) (← links)
• Mutation heterogeneity of cystic fibrosis in France: screening by denaturing gradient gel electrophoresis using psoralen-modified oligonucleotide (Q71720933) (← links)
• Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis (Q73417483) (← links)