COMPOSITION FOR DIAGNOSIS OF CONGENITAL DYSFUNCTION AND USE THEREOF

WIPO Patent Application WO/2017/222248

A1

The present invention relates to a composition for diagnosis of congenital dysfunction and, more specifically, to a composition for diagnosis of congenital dysfunction and a use thereof, the congenital dysfunction being selected from the group consisting of lysosomal accumulation disease, Wilson's disease, and autosomal recessive deafness 1A, the composition comprising a polynucleotide containing a sequence complementary to a sequence of a particular gene exon region. The use of the composition according to the present invention can detect, with high sensitivity and accuracy, a genetic mutation associated with congenital dysfunction in newborn babies or fetuses, and thus the composition of the present invention is useful.

CHO EUN-HAE (KR)
JANG JA-HYUN (KR)
LEE TAEHEON (KR)
JEON YOUNG-JOO (KR)
YOO HAN-WOOK (KR)
KIM GU-HWAN (KR)
KIM KI SOO (KR)
LEE SO YOUNG (KR)

PCT/KR2017/006345

December 28, 2017

June 16, 2017

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GREEN CROSS GENOME CORP (KR)
GREEN CROSS MEDICAL SCIENCE (KR)

C12Q1/68

KR20130098749A	2013-09-05
KR20140140386A	2014-12-09
KR20140000439A	2014-01-03
KR101743211B1	2017-06-15

BARASHKOV ET AL.: "Autosomal Recessive Deafness 1A (DFNB1A) in Yakut Population Isolate in Eastern Siberia: Extensive Accumulation of the Splice Site Mutation IVS1+1G>A in GJB2 Gene as a Result of Founder Effect", JOURNAL OF HUMAN GENETICS, vol. 56, 2011, pages 631 - 639, XP055447861

LEE, Cheo Young et al. (KR)

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