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Article

Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene.

Pediatric pulmonology - 1 May 2008

McBee Amy D, Wegner Daniel J, Carlson Christopher S, Wambach Jennifer A, Yang Ping, Heins Hillary B, Saugstad Ola D, Trusgnich Michelle A, Watkins-Torry Julie, Nogee Lawrence M, Henderson Howard, Cole F Sessions, Hamvas Aaron

Abstract excerpt

OBJECTIVE: To determine haplotype background of common mutations in the genes encoding surfactant proteins B and C (SFTPB and SFTPC) and to assess recombination in SFTPC. STUDY DESIGN: Using comprehensive resequencing of SFTPC and SFTPB, we assessed linkage disequilibrium (LD) (D'), and computationally inferred haplotypes. We computed average recombination rates and Bayes factors (BFs) within SFTPC in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lung Diseases, Interstitial

Share to Mutagenesis, Insertional

Share to Pulmonary Surfactant-Associated Protein B

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Share to Recombination, Genetic

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Source

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Identifiers

PMID: 18383112
DOI: 10.1002/ppul.20782
PMCID: PMC2765708

Genes

SFTPC
SFTPB

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.

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