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Article

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

European journal of medical research - 24 Jun 2008

Schuerman F A B A, Griese M, Gille J P, Brasch F, Noorduyn L A, van Kaam A H

Abstract excerpt

BACKGROUND: Inability to produce surfactant protein (SP)-B causes fatal neonatal respiratory disease. Homozygosity for a frameshift mutation (121ins2) in the gene encoding SP-B (SFTPB) is the predominant but not the exclusive cause of disease. OBJECTIVES: To report a novel mutation in the SFTB gene. METHODS: We analyzed tracheal aspirates, lung tissue obtained by in vivo lung biopsy and DNA from a newborn infant...

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Source

Identifiers

PMID: 18558554

Genes

SFTPB

Provenance

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

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