The mechanism of Z α1-antitrypsin accumulation in the liver

MOST northern Europeans have only the normal M form of the plasma protease inhibitor α 1 ,-antitrypsin, but some 4% are heterozygotes for the Z deficiency variant 1 . For reasons that have not been well-understood, the Z mutation results in a blockage in the final stage of processing of antitrypsin...

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Veröffentlicht in:	Nature (London) 1992-06, Vol.357 (6379), p.605-607
Hauptverfasser:	Lomas, David A., LI-Evans, Dyfed, Finch, John T., Carrell, Robin W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Cellular biology Humanities and Social Sciences Investigative techniques, diagnostic techniques (general aspects) letter Liver Medical sciences Metabolic diseases multidisciplinary Mutation Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Proteinase inhibitors Science Science (multidisciplinary)
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