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

• मुख्य लेखकों: Stefan Kurath-Koller (लेखक), Bernhard Resch (लेखक), Raimund Kraschl (लेखक), Christian Windpassinger (लेखक), Ernst Eber (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Thieme Medical Publishers, Inc., 2015-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract 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 C2...