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Article

Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency.

American journal of respiratory and critical care medicine - 1 Mar 2000

Nogee L M, Wert S E, Proffit S A, Hull W M, Whitsett J A

Abstract excerpt

Inability to produce surfactant protein B (SP-B) causes fatal neonatal respiratory disease. A frame-shift mutation (121ins2) is the predominant but not exclusive cause of disease. To determine the range of mechanisms responsible for SP-B deficiency, both alleles from 32 affected infants were characterized. Sixteen infants were homozygous for the 121ins2 mutation, 10 infants were heterozygous for the 121ins2 and...

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Source

Identifiers

PMID: 10712351
DOI: 10.1164/ajrccm.161.3.9903153

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Source receipt: pubmed, retrieved 7 Sept 2026.

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