Many ΔF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation

[1] IDENTIFICATION OF 3 NOVEL CYSTIC-FIBROSIS MUTATIONS IN A SAMPLE OF ITALIAN CYSTIC-FIBROSIS PATIENTS [J]. HUMAN HEREDITY, 1993, 43 (05) : 295 - 300

[2] BRAEKELEER MD, 1996, MOL HUM REPROD, V9, P669

[3] CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test [J]. JOURNAL OF MEDICAL GENETICS, 1997, 34 (04) : 297 - 301

[4] MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (22) : 1475 - 1480

[5] Frequency of intron 8 CFTR polythymidine sequence variant in neonatal blood specimens [J]. LANCET, 1997, 350 (9088) : 1368 - 1369

[6] FAMILIAL CONCORDANCE OF PANCREATIC FUNCTION IN CYSTIC-FIBROSIS [J]. JOURNAL OF PEDIATRICS, 1989, 115 (02) : 274 - 277

[7] COREY M, 1984, Journal of Pediatric Gastroenterology and Nutrition, V3, pS99, DOI 10.1097/00005176-198400031-00016

[8] Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes - The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation [J]. JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (02) : 487 - 496

[9] CFTR HAPLOTYPE BACKGROUNDS ON NORMAL AND MUTANT CFTR GENES [J]. HUMAN MOLECULAR GENETICS, 1994, 3 (04) : 607 - 614

[10] MULTIPLE MUTATIONS IN HIGHLY CONSERVED RESIDUES ARE FOUND IN MILDLY AFFECTED CYSTIC-FIBROSIS PATIENTS [J]. CELL, 1990, 61 (05) : 863 - 870

[1] IDENTIFICATION OF 3 NOVEL CYSTIC-FIBROSIS MUTATIONS IN A SAMPLE OF ITALIAN CYSTIC-FIBROSIS PATIENTS [J]. HUMAN HEREDITY, 1993, 43 (05) : 295 - 300

[2] BRAEKELEER MD, 1996, MOL HUM REPROD, V9, P669

[3] CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test [J]. JOURNAL OF MEDICAL GENETICS, 1997, 34 (04) : 297 - 301

[4] MUTATIONS IN THE CYSTIC-FIBROSIS GENE IN PATIENTS WITH CONGENITAL ABSENCE OF THE VAS-DEFERENS [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1995, 332 (22) : 1475 - 1480

[5] Frequency of intron 8 CFTR polythymidine sequence variant in neonatal blood specimens [J]. LANCET, 1997, 350 (9088) : 1368 - 1369

[6] FAMILIAL CONCORDANCE OF PANCREATIC FUNCTION IN CYSTIC-FIBROSIS [J]. JOURNAL OF PEDIATRICS, 1989, 115 (02) : 274 - 277

[7] COREY M, 1984, Journal of Pediatric Gastroenterology and Nutrition, V3, pS99, DOI 10.1097/00005176-198400031-00016

[8] Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes - The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation [J]. JOURNAL OF CLINICAL INVESTIGATION, 1998, 101 (02) : 487 - 496

[9] CFTR HAPLOTYPE BACKGROUNDS ON NORMAL AND MUTANT CFTR GENES [J]. HUMAN MOLECULAR GENETICS, 1994, 3 (04) : 607 - 614

[10] MULTIPLE MUTATIONS IN HIGHLY CONSERVED RESIDUES ARE FOUND IN MILDLY AFFECTED CYSTIC-FIBROSIS PATIENTS [J]. CELL, 1990, 61 (05) : 863 - 870