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NEW YORK METHODIST HOSPITAL

NEW YORK METHODIST HOSPITAL Patent applications
Patent application numberTitlePublished
20100239592METHODS OF ANALYSIS AND DETECTING MOLECULAR DEFECTS IN TRANSCOBALAMIN I DEFICIENCY - The present invention provides methods, compositions, and kits for detecting TC I deficiency in individuals with low serum cobalamin levels. Methods for detecting TCN1 mutations and/or the TC I isoforms or products of TCN1 mutations are useful for detecting and diagnosing those who have TC I deficiency and thereby can be said to have TC I deficiency instead of cobalamin deficiency.09-23-2010