| Alpha-1-antitrypsin (Pi) types in Down's syndrome. | |
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MedLine Citation:
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PMID: 135662 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Alpha-1-antitrypsin (Pi) phenotypes have been determined in 40 patients suffering from Down's syndrome. Thirty-six of the patients were found to have a normal M phenotype, whereas two deficient phenotypes of the MS variety were observed. In addition, two M variants were noted. The significance of an M variant phenotype in some patients with Down's syndrome is not completely understood and is currently under investigation. Since the majority of the patients had a normal alpha-1-antitrypsin phenotype, the results of this study indicate that a deficiency in alpha-1-antitrypsin plays no role in the respiratory fragility of individuals with Down's syndrome. |
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Authors:
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P Arnaud; N M Burdash; G B Wilson; H H Fudenberg |
Publication Detail:
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Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: Clinical genetics Volume: 10 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1976 Oct |
Date Detail:
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Created Date: 1976-12-30 Completed Date: 1976-12-30 Revised Date: 2008-11-21 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 239-43 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Down Syndrome / genetics* Female Genetic Variation Humans Infant Male Phenotype alpha 1-Antitrypsin* / analysis |
| Chemical | |
Reg. No./Substance:
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0/alpha 1-Antitrypsin |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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