GENE THERAPY FOR COMBINED METHYLMALONIC ACIDEMIA/ACIDURIA AND HYPERHOMOCYSTEINEMIA/HOMOCYSTINURIA, COBALAMIN C TYPE, AND DEFICIENCY OF MMACHC

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专利权人:

发明人:

Charles P. Venditti,Jennifer L. Sloan

申请号：

US16061091

公开号：

US20180353623A1

申请日:

2016.04.27

申请国别(地区):

US

年份:

2018

代理人:

摘要：

The present invention provides a synthetic MMACHC polynucleotide comprising a polynucleotide encoding MMACHC that is codon-optimized for expression in a human. Also provided is a polypeptide encoded by a synthetic MMACHC polynucleotide, an expression vector comprising a MMACHC gene sequence under the control of a chicken beta actin (CBA) promoter, and an expression vector comprising a synthetic MMACHC polynucleotide. Methods of treating cobalamin C deficiency and for detecting or tracking exogenous MMACHC are also provided.

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