Haplotype data based on the DNA markers closely linked to the cystic fibrosis (CF) gene have been used to correlate the presence of the 3 bp specific deletion (delta F508) in 424 CF chromosomes from 212 Italian CF families. The distribution and the frequency of the F508 deletion on CF chromosomes in our sample suggests the presence of at least a second mutation in the same ancestral haplotype.

Novelli, G., Gasparini, P., Savoia, A., Pignatti, P., Sangiuolo, F.c., Dallapiccola, B. (1990). Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families. HUMAN GENETICS, 85(4), 420-421 [10.1007/BF02428291].

Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families

NOVELLI, GIUSEPPE;SANGIUOLO, FEDERICA CARLA;
1990

Abstract

Haplotype data based on the DNA markers closely linked to the cystic fibrosis (CF) gene have been used to correlate the presence of the 3 bp specific deletion (delta F508) in 424 CF chromosomes from 212 Italian CF families. The distribution and the frequency of the F508 deletion on CF chromosomes in our sample suggests the presence of at least a second mutation in the same ancestral haplotype.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
English
Con Impact Factor ISI
Cystic Fibrosis; Haplotypes; Humans; Italy; Polymorphism, Genetic; Chromosome Deletion
Novelli, G., Gasparini, P., Savoia, A., Pignatti, P., Sangiuolo, F.c., Dallapiccola, B. (1990). Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families. HUMAN GENETICS, 85(4), 420-421 [10.1007/BF02428291].
Novelli, G; Gasparini, P; Savoia, A; Pignatti, P; Sangiuolo, Fc; Dallapiccola, B
Articolo su rivista
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/166561
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus ND
  • ???jsp.display-item.citation.isi??? 13
social impact