Inventors:
RALPH CARMEL - NEW YORK NY, US
Zvi Kelman - Gaithersburg MD, US
Assignee:
NEW YORK METHODIST HOSPITAL - BROOKLYN NY
International Classification:
A61K 39/395, C12Q 1/68, G01N 33/00, C12Q 1/02, C40B 30/00, A61K 31/714, A61K 38/45, A61K 31/713, A61P 7/00
US Classification:
4241581, 435 6, 436 86, 435 29, 506 7, 514 52, 514 44 A, 424 945, 514 44 R
Abstract:
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.