Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients

American Journal of Clinical Pathology

Volumn 141, Issue 5, 2014, Pages 742-746

  Suh Lailam, Brenda B ^a   Procter, Melinda ^b   Krautscheid, Patti ^b   Haas, Jason ^c   Kumar, Shiva ^c   Mao, Rong ^a,b   Grenache, David G ^a,b  

^a ARUP LABORATORIES   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c ST LUKE S MEDICAL CENTER   (United States)

Author keywords

AAT; Genotype; Mmalton; Phenotype; 1 antitrypsin deficiency

Indexed keywords

ALPHA 1 ANTITRYPSIN; PROTEINASE INHIBITOR; PROTEINASE INHIBITOR ISF; PROTEINASE INHIBITOR M MALTON Z; PROTEINASE INHIBITOR M2 Z; UNCLASSIFIED DRUG;

ADULT; ALPHA ANTITRYPSIN DEFICIENCY; ARTICLE; CASE REPORT; CHRONIC OBSTRUCTIVE LUNG DISEASE; CHRONIC RESPIRATORY FAILURE; DISEASE CLASSIFICATION; DNA EXTRACTION; FEMALE; GRAVES DISEASE; HUMAN; HYPERTENSION; HYPOXEMIA; MALE; MEDICAL HISTORY; MIDDLE AGED; PHENOTYPE; AAT; ALGORITHM; ALPHA 1 ANTITRYPSIN DEFICIENCY; GENETICS; GENOTYPE; MMALTON; RISK; Α1-ANTITRYPSIN DEFICIENCY;

AAT; GENOTYPE; MMALTON; PHENOTYPE; Α1-ANTITRYPSIN DEFICIENCY;

ADULT; ALGORITHMS; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; PHENOTYPE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; RISK;

EID: 84902668771     PISSN: 00029173     EISSN: 19437722     Source Type: Journal    
DOI: 10.1309/AJCPR7EIQS8PIMLV     Document Type: Article

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