Open AccessChallenging Identification of a Novel PiISF and the Rare PiMmaltonZ α1-Antitrypsin Deficiency Variants in Two Patients
Author(s) -
Brenda B. Suh-Lailam,
Melinda Procter,
Patti Krautscheid,
Jason Haas,
Shiva Kumar,
Rong Mao,
David G. Grenache
Publication year - 2014
Publication title -
american journal of clinical pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.859
H-Index - 128
eISSN - 1943-7722
pISSN - 0002-9173
DOI - 10.1309/ajcpr7eiqs8pimlv
Subject(s) - alpha 1 antitrypsin deficiency , identification (biology) , medicine , biology , computational biology , genetics , immunology , botany
α1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management.
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