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Publications by Mario La Rosa

Phenotypic Expression of the p.Leu1077Pro CFTR Mutation in Sicilian Cystic Fibrosis Patients

BMC Research Notes

Molecular Biology

English

Hypercalciuria and Nephrocalcinosis as Early Feature of Wilson Disease Onset: Description of a Pediatric Case and Literature Review

Hepatitis Monthly

Infectious Diseases

English

Related publications

CFTR: Cystic Fibrosis and Beyond

European Respiratory Journal

Respiratory Medicine

English

smFRET Reveals Structural Basis for Conformational Misfolding of a Cystic Fibrosis Mutation in CFTR

Biophysical Journal

English

Nine Cystic Fibrosis Patients Homozygous for the CFTR Nonsense Mutation R1162X Have Mild or Moderate Lung Disease.

Journal of Medical Genetics

English

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

Journal of Biological Chemistry

Molecular Biology

English

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

Science-Business eXchange

English

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

Science-Business eXchange

English

Severe Cystic Fibrosis in a Child Homozygous for the G542 Nonsense Mutation in the CFTR Gene.

Journal of Medical Genetics

English

Strategies to Circumvent the CFTR Defect in Cystic Fibrosis

Frontiers Research Topics

English

CFTR Mutations Spectrum and the Efficiency of Molecular Diagnostics in Polish Cystic Fibrosis Patients

Multidisciplinary

English