α1-Antitrypsin deficiency as a result of compound heterozygosity for the Z and MHeerlen alleles [3]

Clinical Chemistry

Volumn 47, Issue 5, 2001, Pages 978-979

  Klaassen, C H W ^a   De Metz, M ^a   Van Aarssen, Y ^a   Janssen, J ^a  

^a CANISIUS WILHELMINA HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ADULT; ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; CASE REPORT; DNA SEQUENCE; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; LETTER; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 0035051020     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/47.5.978     Document Type: Letter

References (8)

1. Competitive assay to improve the specificity of detection of single-point mutations in α1-antitrypsin deficiency
2. Rapid and simple diagnosis of the two common α-1proteinase inhibitor deficiency alleles Pi*Z and Pi*S by DNA analysis
3. Rapid screening for α*antitrypsin Z and S mutations
4. High-speed detection of the two common α*antitrypsin deficiency alleles Pi*Z and Pi*S by real-time fluorescence PCR and melting curves
5. Molecular basis, clinical consequences and diagnosis of α-1 antitrypsin deficiency
6. Heerten
7. The human gene mutation database
8. Clinical features and natural history of severe α1-antitrypsin deficiency