NEW YORK METHODIST HOSPITAL
NEW YORK METHODIST HOSPITAL Patent applications | ||
Patent application number | Title | Published |
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20100239592 | METHODS 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 |