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

An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.

Molecular genetics and metabolism - 1 May 1998

Lin Z, deMello D E, Wallot M, Floros J

Abstract excerpt

Mutations and polymorphisms within the human SP-B locus have been linked to fatal congenital alveolar proteinosis (CAP) and associated with respiratory distress syndrome (RDS), respectively. In the present study we used PCR and direct sequence analysis of the SP-B gene of three individuals from a family with CAP to search for additional SP-B mutations resulting in CAP and/or polymorphisms that could be used as...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Exons
Share to Heterozygote

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

Share to Molecular Sequence Data

Share to Pedigree

Share to Phenotype

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 9682215
DOI: 10.1006/mgme.1998.2702

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.PMID 9682215Read ↗

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.Semantic proximity Read ↗

Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency.Semantic proximity Read ↗

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

Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene.Semantic proximity Read ↗

Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP).Semantic proximity Read ↗

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

Differences in N-linked glycosylation between human surfactant protein-B variants of the C or T allele at the single-nucleotide polymorphism at position 1580: implications for disease.Semantic proximity Read ↗

Pulmonary alveolar proteinosis: a review.Semantic proximity Read ↗

Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS.Semantic proximity Read ↗

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.Semantic proximity Read ↗

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

Association between surfactant protein B + 1580 polymorphism and the risk of respiratory failure in adults with community-acquired pneumonia.Semantic proximity Read ↗

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