Mild CF phenotype associated with T3381 missense mutation [5]

Journal of Pediatrics

Volumn 128, Issue 5 I, 1996, Pages 721-722

  Padoan, R ^a   Seia, M ^a   Cremonesi, L ^a   Giunta, A ^a  

^a UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

CYSTIC FIBROSIS; HUMAN; HYPOCHLOREMIA; LETTER; METABOLIC ALKALOSIS; MISSENSE MUTATION; PANCREAS INSUFFICIENCY; PRIORITY JOURNAL;

EID: 0029869939     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(96)80154-5     Document Type: Letter

References (3)

1. Leoni G.B. Pitzalis S. Podda R. A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration J Pediatr 127 1995 281 283
2. Brancolini V. Cremonesi L. Belloni E. Search for mutations in pancreatic-sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations Hum Genet 96 1995 312 328
3. Cystic Fibrosis Genotype-Phenotype Consortium Correlation between genotype-phenotype in patients with cystic fibrosis N Engl J Med 329 1993 1308 1313