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Article

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.

Human mutation - 1 Jan 1999

Tredano M, van Elburg R M, Kaspers A G, Zimmermann L J, Houdayer C, Aymard P, Hull W M, Whitsett J A, Elion J, Griese M, Bahuau M

Abstract excerpt

Several human respiratory disorders have been linked to an abnormality of pulmonary surfactant synthesis or turnover. Among those conditions, hereditary deficiency in the hydrophobic surfactant protein B (SP-B) has been recognized as a rare cause of respiratory failure in term newborn infants. Homozygosity for a common mutation (1549C-->GAA, or 121ins2) of the SP-B-encoding gene (SFTPB) results in rapidly fatal...

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Identifiers

PMID: 10571948
DOI: 10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C

Genes

SFTPB
GAA

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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