Progress in the analysis of the gene responsible for cystinuria

P. Gasparini, L. Bisceglia, J. Calonge, V. Nunes, M. Palacin, E. Beccia, M. Gallucci, L. Zelante

Research output: Contribution to journalArticle

Abstract

Recently our group contributed to the identification of the gene responsible for cystinuria, a very common inherited disease characterized by the presence of calculi and renal infections. The mutations, so far identified, cover a proportion of about 30% of all cystinuric chromosomes analyzed, thus a large proportion of affected chromosomes still remain to be characterized. Moreover, the genomic structure of the rBAT gene is still unknown. Therefore, we are working to define the genomic structure of rBAT gene, to search for cystinuric mutations in a large Italian population, to establish their frequency, and to determine genotype-phenotype relationships.

Original languageEnglish
Pages (from-to)127-128
Number of pages2
JournalBulletin of Molecular Biology and Medicine
Volume20
Issue number3-4
Publication statusPublished - 1995

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Cystinuria
Genes
Chromosomes
Mutation
Kidney Calculi
Genotype
Phenotype
Infection
Population

ASJC Scopus subject areas

  • Clinical Biochemistry

Cite this

Gasparini, P., Bisceglia, L., Calonge, J., Nunes, V., Palacin, M., Beccia, E., ... Zelante, L. (1995). Progress in the analysis of the gene responsible for cystinuria. Bulletin of Molecular Biology and Medicine, 20(3-4), 127-128.

Progress in the analysis of the gene responsible for cystinuria. / Gasparini, P.; Bisceglia, L.; Calonge, J.; Nunes, V.; Palacin, M.; Beccia, E.; Gallucci, M.; Zelante, L.

In: Bulletin of Molecular Biology and Medicine, Vol. 20, No. 3-4, 1995, p. 127-128.

Research output: Contribution to journalArticle

Gasparini, P, Bisceglia, L, Calonge, J, Nunes, V, Palacin, M, Beccia, E, Gallucci, M & Zelante, L 1995, 'Progress in the analysis of the gene responsible for cystinuria', Bulletin of Molecular Biology and Medicine, vol. 20, no. 3-4, pp. 127-128.
Gasparini, P. ; Bisceglia, L. ; Calonge, J. ; Nunes, V. ; Palacin, M. ; Beccia, E. ; Gallucci, M. ; Zelante, L. / Progress in the analysis of the gene responsible for cystinuria. In: Bulletin of Molecular Biology and Medicine. 1995 ; Vol. 20, No. 3-4. pp. 127-128.
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