Advances in Human Genetics by John B. Graham, Emily S. Barrow, Howard M. Reisner (auth.),

By John B. Graham, Emily S. Barrow, Howard M. Reisner (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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There may be some duplication of patients among reports. Classification by original authors was used when available. When unavailable, values ",;5% judged as CRM -, ~60% judged as CRM + . This classification was used to make inhibitor neutralization results comparable to radioimmunoassay or electroimmunoassay (Laurel\) results. C Summary of older data; classification of Roberts used. d Inhibitor neutralization assay data. b phasize the need for caution in comparisons made using different antibodies.

The smallest multi mer appears to represent a disulfide-bonded tetramer of the basic 200,000 subunit (see Fig. 4). 4 X 106 , . • , 12 X 106 (Hoyer, 1981). , 1978). The multimers can be dissociated into subunits of My ~200,000 by reduction with dithiothreitol or l3-mercaptoethanol but not 6 M guanidine or 1% SDS alone (Hoyer, 1981). Biochemical characterization of highly purified human VIlIR:WF has demonstrated the presence of carbohydrate (5-6%), with galactose, glucosamine, and sialic acid being specific components (G.

Factor VII is exceptional in that activation proceeds without loss of mass, only the amino-terminal cleavage occurring. The activation peptide region of activated F. , 1979; Jackson and Nemerson, 1979; Jackson, 1981; Zur and Nemerson, 1981). The role of the released activation peptides, if any, is unknown. The Catalytic Domain The carboxy-terminal catalytic region of the vitamin K-dependent proteases consists of about 250 residues with strong structural homology to the pancreatic proteases. Forty to fifty percent of the residues are identical in pairwise comparisons between Fs.

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