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Article

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

The Journal of clinical investigation - 1 Apr 1994

Nogee L M, Garnier G, Dietz H C, Singer L, Murphy A M, deMello D E, Colten H R

Abstract excerpt

To determine the molecular defect accounting for the deficiency of pulmonary surfactant protein B (SP-B) in full-term neonates who died from respiratory failure associated with alveolar proteinosis, the sequence of the SP-B transcript in affected infants was ascertained. A frameshift mutation consisting of a substitution of GAA for C in codon 121 of the SP-B cDNA was identified. The three affected infants in the...

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Identifiers

PMID: 8163685
DOI: 10.1172/JCI117173
PMCID: PMC294267

Genes

GAA

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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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