Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Genetic basis in chronic interstitial familial pneumopathy. Familial study of SFTPC].

La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000

Somaschini Marco, Cavazza Alessandra, Riva Silvia, Sassi Isabella, Carrera Paola

Abstract excerpt

Mutations in the gene encoding surfactant protein C (SP-C) SFTPC have been found to be associated with chronic interstitial lung disease. A 5-year-old girl oxygen dependent from birth and affected by interstitial lung disease (ILD) is heterozygous for a T to C change in exon 3 resulting in the substitution of threonine for isoleucine at codon 73 (173T), already described in association with ILD. We studied 25...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Chronic Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Lung Diseases, Interstitial

Share to Mutation, Missense

Share to Pedigree

Share to Polymerase Chain Reaction

Share to Pulmonary Surfactant-Associated Protein C

Source

Identifiers

PMID: 16910460

Genes

SFTPC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Genetic basis in chronic interstitial familial pneumopathy. Familial study of SFTPC].PMID 16910460Read ↗

Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.Semantic proximity Read ↗

Pediatric Case Report on an Interstitial Lung Disease with a Novel Mutation of SFTPC Successfully Treated with Lung Transplantation.Semantic proximity Read ↗

Surfactant protein C mutations are the basis of a significant portion of adult familial pulmonary fibrosis in a dutch cohort.Semantic proximity Read ↗

[I73T mutation in the pulmonary surfactant protein C gene associated with pediatric interstitial lung disease: a case study and the review of related literature].Semantic proximity Read ↗

A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.Semantic proximity Read ↗

Interstitial lung disease in children -- genetic background and associated phenotypes.Semantic proximity Read ↗

Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.Semantic proximity Read ↗

Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.Semantic proximity Read ↗

A common mutation in the surfactant protein C gene associated with lung disease.Semantic proximity Read ↗

Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.Semantic proximity Read ↗

New surfactant protein C gene mutations associated with diffuse lung disease.Semantic proximity Read ↗

[Pulmonary surfactant protein gene mutation associated with pediatric interstitial lung disease: a case study and the review of related literature].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.