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Article

Aberrant SP-B mRNA in lung tissue of patients with congenital alveolar proteinosis (CAP).

Clinical genetics - 1 May 2000

Lin Z, deMello D E, Batanian J R, Khammash H M, DiAngelo S, Luo J, Floros J

Abstract excerpt

Mutations in the surfactant protein (SP)-B gene are responsible for SP-B deficiency in congenital alveolar proteinosis (CAP) (Nogee et al. J Clin Invest 1994: 93: 1860-1883; Lin et al. Mol Genet Metab 1998: 64: 25-35; Klein et al. Pediatrics 1998: 132: 244-248; Ballard et al. Pediatrics 1995: 96: 1046-1052). The multigenerational consanguineous pedigree under study does not carry any of the known mutations,...

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Identifiers

PMID: 10852370
DOI: 10.1034/j.1399-0004.2000.570506.x

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