A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: Identification, regional distribution, and clinical presentation [4]

V. Nunes, A. Bonizzato, A. Gaona, M. Dognini, M. Chillon, T. Casals, P. F. Pignatti, G. Novelli, Xavier P. Estivill, P. Gasparini

Research output: Contribution to journalLetter

7 Citations (Scopus)
Original languageEnglish
Pages (from-to)1140-1142
Number of pages3
JournalAmerican Journal of Human Genetics
Volume50
Issue number5
Publication statusPublished - 1992
Externally publishedYes

Fingerprint

Molecular Sequence Data
Hospital Distribution Systems
Cystic Fibrosis Transmembrane Conductance Regulator
Frameshift Mutation
Heterozygote
Cystic Fibrosis
Spain
Membrane Proteins
Polymerase Chain Reaction
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene : Identification, regional distribution, and clinical presentation [4]. / Nunes, V.; Bonizzato, A.; Gaona, A.; Dognini, M.; Chillon, M.; Casals, T.; Pignatti, P. F.; Novelli, G.; Estivill, Xavier P.; Gasparini, P.

In: American Journal of Human Genetics, Vol. 50, No. 5, 1992, p. 1140-1142.

Research output: Contribution to journalLetter

Nunes, V, Bonizzato, A, Gaona, A, Dognini, M, Chillon, M, Casals, T, Pignatti, PF, Novelli, G, Estivill, XP & Gasparini, P 1992, 'A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene: Identification, regional distribution, and clinical presentation [4]', American Journal of Human Genetics, vol. 50, no. 5, pp. 1140-1142.
Nunes, V. ; Bonizzato, A. ; Gaona, A. ; Dognini, M. ; Chillon, M. ; Casals, T. ; Pignatti, P. F. ; Novelli, G. ; Estivill, Xavier P. ; Gasparini, P. / A frameshift mutation (2869insG) in the second transmembrane domain of the CFTR gene : Identification, regional distribution, and clinical presentation [4]. In: American Journal of Human Genetics. 1992 ; Vol. 50, No. 5. pp. 1140-1142.
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