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Article

Genetic variant characterization in intron 4 of the surfactant protein B gene.

Human mutation - 1 Nov 2005

Hamvas Aaron, Wegner Daniel J, Trusgnich Michelle A, Madden Katherine, Heins Hillary, Liu Ying, Rice Treva, An Ping, Watkins-Torry Julie, Cole F Sessions

Abstract excerpt

Genetic variants in intron 4 of the surfactant protein B gene SFTPB have been associated with pulmonary morbidity in newborn infants and adults. Genetic variant discovery in intron 4 requires high fidelity polymerase amplification due to a variable number of intermotif dinucleotide repeats and reliable characterization of alleles genetically distinct due to insertion, deletion, or both of 11 conserved sequence...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16211553
DOI: 10.1002/humu.9378

Genes

SFTPB

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.

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