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Alpha1-antitrypsin deficiency with M-like phenotype.

A patient with a low serum concentration of alpha1-antitrypsin (0-1 g/l) but with an M-like phenotype is described. Her parents and 2 sibs have a PIM phenotype, but all except the father have approximately half-normal levels of alpha1-antitrypsin: The M-like variant apparently cannot be distinguishe...

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Bibliografske podrobnosti
izdano v:J Med Genet
Main Authors: Kueppers, F, Utz, G, Simon, B
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 1977
Teme:
Online dostop:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013553/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/301942/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.14.3.183
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