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Article

Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.

Pancreas - 1 Jan 2009

Alghisi Federico, Bella Sergio, Lucidi Vincenzina, Angioni Adriano, Tomaiuolo Anna C, D'Apice Maria R, Gambardella Stefano, Novelli Giuseppe

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Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 19106752
DOI: 10.1097/MPA.0b013e3181671b9c

Genes

CFTR

Provenance

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Related research

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Phenotypic variability in a family with pancreatitis and cystic fibrosis sharing common mild CFTR mutation: report on CFTR mutations and their phenotypic variability.PMID 19106752Read ↗

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Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D.Semantic proximity Read ↗

CFTR and/or pancreatitis susceptibility genes mutations as risk factors of pancreatitis in cystic fibrosis patients?Semantic proximity Read ↗

Pancreatic Insufficiency in a Child with p.Gly542* and c.2657+5G>A Heterozygote CFTR: A Case Report.Semantic proximity Read ↗

Impact of CFTR large deletions and insertions on the clinical and laboratory severity of cystic fibrosis: a serial case report.Semantic proximity Read ↗

Progression from acute to chronic pancreatitis associated with CFTR and SPINK1 mutations.Semantic proximity Read ↗

Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype.Semantic proximity Read ↗

Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report.Semantic proximity Read ↗

Genotypes and phenotypes in cystic fibrosis and cystic fibrosis transmembrane regulator-related disorders.Semantic proximity Read ↗

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