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Article

Prolonged survival in hereditary surfactant protein B (SP-B) deficiency associated with a novel splicing mutation.

Pediatric research - 1 Sept 2000

Dunbar A E, Wert S E, Ikegami M, Whitsett J A, Hamvas A, White F V, Piedboeuf B, Jobin C, Guttentag S, Nogee L M

Abstract excerpt

Hereditary surfactant protein B (SP-B) deficiency has been lethal in the first year of life without lung transplantation. We tested the hypothesis that SP-B gene mutations may result in milder phenotypes by investigating the mechanisms for lung disease in two children with less severe symptoms than have been previously observed in SP-B deficiency. Immunostaining patterns for pulmonary surfactant proteins were...

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Source

Identifiers

PMID: 10960490
DOI: 10.1203/00006450-200009000-00003

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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