A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.

R. Padoan, A. Bassotti, M. Seia, A. Ambrosioni, S. Fiori, S. Prandoni, A. C. Rajnoldi, A. Giunta, C. Corbetta

Research output: Contribution to journalArticle

8 Citations (Scopus)
Original languageEnglish
Pages (from-to)485
Number of pages1
JournalHuman Mutation
Volume15
Issue number5
Publication statusPublished - May 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Padoan, R., Bassotti, A., Seia, M., Ambrosioni, A., Fiori, S., Prandoni, S., ... Corbetta, C. (2000). A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis. Human Mutation, 15(5), 485.

A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis. / Padoan, R.; Bassotti, A.; Seia, M.; Ambrosioni, A.; Fiori, S.; Prandoni, S.; Rajnoldi, A. C.; Giunta, A.; Corbetta, C.

In: Human Mutation, Vol. 15, No. 5, 05.2000, p. 485.

Research output: Contribution to journalArticle

Padoan, R, Bassotti, A, Seia, M, Ambrosioni, A, Fiori, S, Prandoni, S, Rajnoldi, AC, Giunta, A & Corbetta, C 2000, 'A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis.', Human Mutation, vol. 15, no. 5, pp. 485.
Padoan, R. ; Bassotti, A. ; Seia, M. ; Ambrosioni, A. ; Fiori, S. ; Prandoni, S. ; Rajnoldi, A. C. ; Giunta, A. ; Corbetta, C. / A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis. In: Human Mutation. 2000 ; Vol. 15, No. 5. pp. 485.
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