Registro completo |
Provedor de dados: |
Genet. Mol. Biol.
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País: |
Brazil
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Título: |
Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease
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Autores: |
Baldo,Guilherme
Ayala,Ana
Melendez,Matias
Nonnemacher,Karina
Lima,Luciane
Segal,Sandra Leistner
Kieling,Carlos
Vieira,Sandra Gonçalves
Ferreira,Cristina Targa
Silveira,Themis Reverbel da
Giugliani,Roberto
Matte,Ursula
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Data: |
2008-01-01
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Ano: |
2008
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Palavras-chave: |
Alpha-1-antitrypsin deficiency
Liver disease
Pediatric patients
SERPINA1
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Resumo: |
Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1) deficiency is one of the main genetic causes related to liver disease in children. In SERPINA1 deficiency the most frequent SERPINA1 alleles found are the PI*S and PI*Z alleles. We used the polymerase chain reaction and the amplification created restriction site (ACRS) technique to investigate the prevalence of the PI*S and PI*Z alleles in a group of Brazilian children (n = 200) with liver disease and established the general frequency of the PI*S allele in our population. We found a significant association of the PI*Z allele and liver disease, but no such relationship was found for the PI*S allele. Our results show that SERPINA1 deficiency due to the PI*Z allele, even when heterozygous, is a frequent cause of liver disease in our group of Brazilian children but that the PI*S allele does not confer an increased risk of hepatic disorders in our group of Brazilian children.
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Tipo: |
Info:eu-repo/semantics/article
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Idioma: |
Inglês
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Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000300005
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Editor: |
Sociedade Brasileira de Genética
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Relação: |
10.1590/S1415-47572008000300005
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Formato: |
text/html
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Fonte: |
Genetics and Molecular Biology v.31 n.2 2008
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Direitos: |
info:eu-repo/semantics/openAccess
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