Frequency of intron 8 CFTR polythymidine sequence variant in neonatal blood specimens

Lancet

Volumn 350, Issue 9088, 1997, Pages 1368-1369

  Chin, S ^b   Ranieri, E ^b   Gerace, R L ^b   Nelson, P V ^b   Carey, W F ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

THYMIDINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AMINO ACID SEQUENCE; ARTICLE; CYSTIC FIBROSIS; DNA POLYMORPHISM; EARLY DIAGNOSIS; GENE FREQUENCY; GENE MUTATION; HETEROZYGOTE; HUMAN; INTRON; MAJOR CLINICAL STUDY; NEWBORN; PRIORITY JOURNAL;

EID: 0031573108     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(05)65140-9     Document Type: Article

References (5)

1. Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245: 1073-80.
2. Ranieri E, Lewis BD, Morris CP, Wilcken B. Neonatal screening using combined biochemical and DNA based techniques. In: Dodge JA, Brock DJH, Widdicombe SH, eds. Cystic fibrosis - current topics. Chichester: John Wiley and Son, Ltd, 1996: 181-206.
3. Kiesewetter S, Macek M Jr, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993; 5: 274-78.
4. Mecier B, Verlingue C, Lissens W, et al. Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. Am J Hum Genet 1995; 56: 272-77.
5. Castellani C, Bonizzato A, Mastella G. CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test. J Med Genet 1997; 34: 297-301.