A novel alpha-1-antitrypsin P362H variant found in a population sample from São Tomé e Príncipe (Gulf of Guinea, West Africa)

Human Mutation

Volumn 13, Issue 5, 1999, Pages 414-

  Seixas, Susana ^a   Trovoada, M Jesus ^b   Santos, M Teresa ^a   Rocha, Jorge ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b UNIVERSITY OF COIMBRA   (Portugal)

Author keywords

Alpha 1 antitrypsin; Rare P362H normal substitution; West Africa

Indexed keywords

EID: 4243811951     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1999)13:5<414::aid-humu19>3.0.co;2-%23     Document Type: Article

References (4)

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2. Graham A, Kalsheker NA, Bamford FJ, Newton CR, Markham AF (1990) Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null Newport (Gly115-Ser) and (Pi) Z Wrexham (Ser-19-Leu). Hum Genet 85: 537-540.
3. Faber J-P, Poller W, Weidinger S, Kirchgesser M, Schaab R, Bidlingmeier F, Olek K (1994) Identification and DNA sequence analysis of 15 new alpha-1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet 55: 1113-1121.
4. Fraizier GC, Siewertsen M, Harrold TR, Cox DW (1989) Deletion frameshift mutation in the alpha-1-antitrypsin null allele, PI*Q0bolton. Hum Genet 83:377-382.