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Title:
ヒドロキシステロイド17-βデヒドロゲナーゼ13(HSD17B13)バリアント及びその使用
Document Type and Number:
Japanese Patent JP7458785
Kind Code:
B2
Abstract:
Provided are compositions related to HSD17B13 variants, including nucleic acid molecules and polypeptides related to variants of HSD17B13, and cells comprising those nucleic acid molecules and polypeptides. Also provided are methods related to HSD17B13 variants. Such methods include methods for detecting the presence of the HSD17B13 rs72613567 variant in a biological sample comprising genomic DNA, for detecting the presence or levels of any one of variant HSD17B13 Transcripts C, D, E, F, G, and H, and particularly D, in a biological sample comprising mRNA or cDNA, or for detecting the presence or levels of any one of variant HSD17B13 protein Isoforms C, D, E, F, G, or H, and particularly D, in a biological sample comprising protein. Also provided are methods for determining a subject's susceptibility to developing a liver disease or of diagnosing a subject with liver disease.

Inventors:
Abul-Husn, Noura S.
Gottesman, Omri
Lee, Alexander
Chain, seapin
Shin, Yulong
Gromada, Jesper
Dewey, Frederick E.
Barras, Alice
Surdiner, Alan
Application Number:
JP2019539795A
Publication Date:
April 01, 2024
Filing Date:
January 19, 2018
Export Citation:
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Assignee:
REGENERON PHARMACEUTICALS, INC.
International Classes:
C12N15/53; C12N1/15; C12N1/19; C12N1/21; C12N5/10; C12N9/04; C12N15/63; C12Q1/6827; C12Q1/6851; C12Q1/686; C12Q1/6869; C12Q1/6883
Domestic Patent References:
JP2004512803A
Foreign References:
WO2013190075A2
Other References:
Endocr J.,2014年05月01日,61(7),p. 683-689
Attorney, Agent or Firm:
Makoto Onda
Hironobu Onda
Atsushi Honda
Miki Nakamura