Associated Papers
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.
Sheridan MB et al.
Journal of Medical Genetics, 2011
Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.
Narzi L et al.
Clinical Genetics, 2007
Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.
Eudes R et al.
Cellular and Molecular Life Sciences : Cmls, 2005
Aggregation of misfolded proteins can be a selective process dependent upon peptide composition.
Milewski MI et al.
The Journal of Biological Chemistry, 2002
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
Efficient endocytosis of the cystic fibrosis transmembrane conductance regulator requires a tyrosine-based signal.
Prince LS et al.
The Journal of Biological Chemistry, 1999
Molecular basis of cystic fibrosis in the Republic of Macedonia.
Petreska L et al.
Clinical Genetics, 1998
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.
Brancolini V et al.
Human Genetics, 1995
Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.
Petreska L et al.
Human Molecular Genetics, 1994
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