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

Internet

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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