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

Population-based estimates of surfactant protein B deficiency.

Pediatrics - 1 Mar 2000

Cole F S, Hamvas A, Rubinstein P, King E, Trusgnich M, Nogee L M, deMello D E, Colten H R

Abstract excerpt

OBJECTIVE: Surfactant protein B deficiency is a lethal cause of respiratory distress in infancy that results most commonly from a homozygous frameshift mutation (121ins2). Using independent clinical ascertainment and molecular methods in different populations, we sought to determine allele frequency. STUDY DESIGN: Using clinical characteristics of the phenotype of affected infants, we screened the Missouri linked...

Read the complete abstract on PubMed

Topics

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

Share to Frameshift Mutation
Share to Genetic Testing
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Missouri

Share to New York

Share to Proteolipids

Share to Pulmonary Surfactants

Share to Respiratory Distress Syndrome, Newborn

Source

Identifiers

PMID: 10699106
DOI: 10.1542/peds.105.3.538

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

Population-based estimates of surfactant protein B deficiency.PMID 10699106Read ↗

Population and disease-based prevalence of the common mutations associated with surfactant deficiency.Semantic proximity Read ↗

Surfactant Protein-B 121ins2 Heterozygosity, Reduced Pulmonary Function, and Chronic Obstructive Pulmonary Disease in SmokersSemantic proximity Read ↗

Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards.Semantic proximity Read ↗

Partial deficiency of surfactant protein B in an infant with chronic lung disease.Semantic proximity Read ↗

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.Semantic proximity Read ↗

Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency.Semantic proximity Read ↗

Human Surfactant Proteins A2 (SP-A2) and B (SP-B) Genes as Determinants of Respiratory Distress Syndrome.Semantic proximity Read ↗

Surfactant protein B deficiency: clinical, histological and molecular evaluation.Semantic proximity Read ↗

Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.Semantic proximity Read ↗

A Comprehensive Compilation of Data on the Relationship Between Surfactant Protein-B (SFTPB) Polymorphisms and Susceptibility to Neonatal Respiratory Distress Syndrome.Semantic proximity Read ↗

Surfactant Protein A and B Gene Polymorphisms and Risk of Respiratory Distress Syndrome in Late-Preterm Neonates.Semantic proximity Read ↗

Surfactant protein B gene polymorphism in preterm babies with respiratory distress syndrome.Semantic proximity Read ↗

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