Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis

Clinica Chimica Acta

Volumn 412, Issue 15-16, 2011, Pages 1454-1456

  Greene, Dina N ^a   Procter, Melinda ^b   Grenache, David G ^a,b   Lyon, Elaine ^a,b   Bornhorst, Joshua A ^c   Mao, Rong ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

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

^c UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Alpha 1 antitrypsin; Genotype; Isoelectric focusing; LightCycler; Phenotype

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ALPHA 1 ANTITRYPSIN GENE; ANALYTICAL EQUIPMENT; ARTICLE; BINDING SITE; CONTROLLED STUDY; DNA SEQUENCE; GENE; GENE AMPLIFICATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; IMMUNOTURBIDIMETRY; ISOELECTRIC FOCUSING; MELT CURVE ANALYSIS; MOLECULAR PROBE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN VARIANT; TURBIDIMETRY; WILD TYPE;

ALPHA 1-ANTITRYPSIN; DNA FINGERPRINTING; GENETIC VARIATION; GENOTYPE; HUMANS; NEPHELOMETRY AND TURBIDIMETRY; NUCLEIC ACID DENATURATION; PHENOTYPE; POLYMORPHISM, GENETIC; TEMPERATURE;

EID: 79956292638     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2011.03.032     Document Type: Article

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