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1. (WO2018016884) COMPOSITION FOR DIAGNOSING CONGENITAL FUNCTIONAL DISORDER, AND USE THEREOF

Pub. No.:    WO/2018/016884    International Application No.:    PCT/KR2017/007801
Publication Date: Fri Jan 26 00:59:59 CET 2018 International Filing Date: Fri Jul 21 01:59:59 CEST 2017
IPC: C12Q 1/68
Applicants: GREEN CROSS GENOME CORPORATION
주식회사 녹십자지놈
GREEN CROSS MEDICAL SCIENCE
주식회사 녹십자엠에스
Inventors: CHO, Eun-Hae
조은해
JANG, Ja-Hyun
장자현
LEE, Taeheon
이태헌
JEON, Young-Joo
전영주
YOO, Han-Wook
유한욱
KIM, Ki Soo
김기수
LEE, So Young
이소영
KIM, Young-Eun
김영은
LEE, Junnam
이준남
KIM, Gu-Hwan
김구환
LIM, Chae Hyun
임채현
KIM, Min jung
김민정
HWANG, Tai-Ju
황태주
YOO, Ki-Young
유기영
Title: COMPOSITION FOR DIAGNOSING CONGENITAL FUNCTIONAL DISORDER, AND USE THEREOF
Abstract:
The present invention relates to a composition for diagnosing congenital functional disorders and, more particularly, to: a composition for diagnosing congenital functional disorders, in which a polynucleotide containing a sequence that is complementary to a sequence in an exon region of a particular gene is selected from the group consisting of Inherited Bleeding Coagulation Disorders (IBCD), Inborn Error Of Metabolism (IEM), and RASopathies (RAS); and a use thereof. The composition according to the present invention is useful in that gene mutations related to congenital functional disorders in infants or fetuses can be detected with high sensitivity and accuracy when the composition is used.