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Alpha 1 antitrypsin deficiency due to Pi null: clinical presentation and evidence for molecular heterogeneity.

The proteinase inhibitor null (Pi-) allele is a rare cause of alpha 1 antitrypsin (AAT) deficiency. In three families, all the subjects with AAT deficiency due to PiZ- presented in early childhood with recurrent chest infections and wheezing presumably related to passive smoking. In Pi- the AAT gene...

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Detalhes bibliográficos
Main Authors: Bamforth, F J, Kalsheker, N A
Formato: Artigo
Idioma:Inglês
Publicado em: 1988
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015448/
https://ncbi.nlm.nih.gov/pubmed/2831367
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