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MX2019008675A - Variantes de hidroxiesteroide 17-beta deshidrogenasa 13 (hsd17b13) y usos de estas. - Google Patents

Variantes de hidroxiesteroide 17-beta deshidrogenasa 13 (hsd17b13) y usos de estas.

Info

Publication number
MX2019008675A
MX2019008675A MX2019008675A MX2019008675A MX2019008675A MX 2019008675 A MX2019008675 A MX 2019008675A MX 2019008675 A MX2019008675 A MX 2019008675A MX 2019008675 A MX2019008675 A MX 2019008675A MX 2019008675 A MX2019008675 A MX 2019008675A
Authority
MX
Mexico
Prior art keywords
hsd17b13
variants
methods
variant
biological sample
Prior art date
Application number
MX2019008675A
Other languages
English (en)
Inventor
Gottesman Omri
Gromada Jesper
S Abul-Husn Noura
Li Alexander
Cheng Xiping
Xin Yurong
E Dewey Frederick
Baras Aris
Shuldiner Alan
Original Assignee
Regeneron Pharma
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Regeneron Pharma filed Critical Regeneron Pharma
Publication of MX2019008675A publication Critical patent/MX2019008675A/es

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    • C12N9/0006—Oxidoreductases (1.) acting on CH-OH groups as donors (1.1)
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Abstract

Se proporcionan composiciones relacionadas con variantes de HSD17B13 que incluyen moléculas de ácido nucleico y polipéptidos relacionados con variantes de HSD17B13, y células que comprenden esas moléculas de ácido nucleico y polipéptidos. También se proporcionan métodos relacionados con las variantes de HSD17B13. Tales métodos incluyen métodos para detectar la presencia de la variante rs72613567 de HSD17B13 en una muestra biológica que comprende ADN genómico, para detectar la presencia o los niveles de cualquiera de los transcriptos C, D, E, F, G y H de la variante de HSD17B13, y particularmente D, en una muestra biológica que comprenda ARNm o ADNc, o para detectar la presencia o los niveles de cualquiera de las isoformas C, D, E, F, G o H de la variante de HSD17B13 en una muestra biológica que contiene proteína. También se proporcionan métodos para determinar la susceptibilidad de un sujeto de desarrollar una enfermedad hepática o para diagnosticar a un sujeto con una enfermedad hepática.
MX2019008675A 2017-01-23 2018-01-19 Variantes de hidroxiesteroide 17-beta deshidrogenasa 13 (hsd17b13) y usos de estas. MX2019008675A (es)

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