A challenging diagnosis of alpha-1-antitrypsin deficiency: Identification of a patient with a novel F/Null phenotype

Allergy, Asthma and Clinical Immunology

Volumn 7, Issue 1, 2011, Pages

  Ringenbach, Michael R ^a   Banta, Erin ^a   Snyder, Melissa R ^c   Craig, Timothy J ^a   Ishmael, Faoud T ^a,b  

^a PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^b PENN STATE COLLEGE OF MEDICINE   (United States)

^c Mayo Clinic College of Medicine   (United States)

Author keywords

Alpha 1 antitrypsin; Diagnostic testing; Genotype; Phenotype

Indexed keywords

ALPHA 1 ANTITRYPSIN; AZELASTINE; CETIRIZINE; FLUTICASONE; HYDROXYZINE; MOMETASONE FUROATE; PREDNISONE; SALBUTAMOL;

ADULT; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; CASE REPORT; CHRONIC OBSTRUCTIVE LUNG DISEASE; DIAGNOSTIC TEST; DYSPNEA; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; HUMAN TISSUE; LUNG FUNCTION TEST; MALE; NULL ALLELE; PHENOTYPE; PHYSICAL EXAMINATION; PROTEIN ANALYSIS; RASH; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; URTICARIA;

EID: 84862123482     PISSN: 17101484     EISSN: 17101492     Source Type: Journal    
DOI: 10.1186/1710-1492-7-18     Document Type: Article

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