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Surfactant Protein B Deficiency Caused by Homozygous C248X Mutation—A Case Report and Review of the Literature

Objective Surfactant protein B (SP-B) deficiency is a rare autosomal recessive disorder that is usually rapidly fatal. The c.397delCinsGAA mutation (121ins2) in exon 4 is found in more than two-thirds of patients. Design We report on a fatal case of SP-B deficiency caused by a homozygous C248X mutat...

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Detalles Bibliográficos
Autores principales:	Kurath-Koller, Stefan, Resch, Bernhard, Kraschl, Raimund, Windpassinger, Christian, Eber, Ernst
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Thieme Medical Publishers 2015
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502623/ https://www.ncbi.nlm.nih.gov/pubmed/26199800 http://dx.doi.org/10.1055/s-0035-1545668

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