Title : Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis.

Pub. Date : 1994 May 1

PMID : 7913773






1 Functional Relationships(s)
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Protein Name
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1 Further analysis of the father and members of other arms of the kindred revealed a different mutation (C insertion: CAT-->CCAT), resulting in a frameshift beginning at amino acid #107 (His-->Pro) and truncation of the protein at codon #119 of the mature protein. Histidine catalase Homo sapiens