A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2350
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome ; volume:18 ; number:1 ; day:23 ; month:8 ; year:2017 ; pages:1-9 ; date:12.2017
BMC medical genetics ; 18, Heft 1 (23.8.2017), 1-9, 12.2017
- Keyword
-
Kardiovaskuläre Krankheit
- Creator
-
Chen, Kui
- Contributor
-
Yang, Ke
Luo, Su-Shan
Chen, Chen
Wang, Ying
Wang, Yi-Xuan
Li, Da-Ke
Yang, Yu-jie
Tang, Yi-Lin
Liu, Feng-Tao
Wang, Jian
Wu, Jian-jun
Sun, Yi-min
SpringerLink (Online service)
- DOI
-
10.1186/s12881-017-0453-0
- URN
-
urn:nbn:de:1111-201711046878
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:36 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Chen, Kui
- Yang, Ke
- Luo, Su-Shan
- Chen, Chen
- Wang, Ying
- Wang, Yi-Xuan
- Li, Da-Ke
- Yang, Yu-jie
- Tang, Yi-Lin
- Liu, Feng-Tao
- Wang, Jian
- Wu, Jian-jun
- Sun, Yi-min
- SpringerLink (Online service)
Other Objects (12)
How do behavior problems change over time in childhood? Evidence from the early childhood longitudinal study
Synthesis of Ambient Copolymerization CQAS Hydrogel Composite Membrane with Enhanced Antifouling
Extending the Technology Acceptance Model (TAM) to explore customer's behavioral intention to use Self-Service Technologies (SSTs) in Chinese budget hotels
Cu-bearing stainless steel reduces cytotoxicity and crystals adhesion after ureteral epithelial cells exposing to calcium oxalate monohydrate
Variations in cyclin D1 levels through the cell cycle determine the proliferative fate of a cell
Fracture behavior and acoustic emission characteristics of sandstone samples with inclined precracks
Tensor stability in Born-Infeld determinantal gravity
Thick brane in Rastall gravity
Thick branes in Born–Infeld determinantal gravity in Weitzenböck spacetime
A braneworld model in a massive gravity
Breaking and mining-induced stress evolution of overlying strata in the working face of a steeply dipping coal seam
Nonlinearity in Memristors for Neuromorphic Dynamic Systems
How do behavior problems change over time in childhood? Evidence from the early childhood longitudinal study
Synthesis of Ambient Copolymerization CQAS Hydrogel Composite Membrane with Enhanced Antifouling
Extending the Technology Acceptance Model (TAM) to explore customer's behavioral intention to use Self-Service Technologies (SSTs) in Chinese budget hotels
Cu-bearing stainless steel reduces cytotoxicity and crystals adhesion after ureteral epithelial cells exposing to calcium oxalate monohydrate
Variations in cyclin D1 levels through the cell cycle determine the proliferative fate of a cell
Fracture behavior and acoustic emission characteristics of sandstone samples with inclined precracks
Tensor stability in Born-Infeld determinantal gravity
Thick brane in Rastall gravity
Thick branes in Born–Infeld determinantal gravity in Weitzenböck spacetime
A braneworld model in a massive gravity
Breaking and mining-induced stress evolution of overlying strata in the working face of a steeply dipping coal seam
Nonlinearity in Memristors for Neuromorphic Dynamic Systems
How do behavior problems change over time in childhood? Evidence from the early childhood longitudinal study
Synthesis of Ambient Copolymerization CQAS Hydrogel Composite Membrane with Enhanced Antifouling
Extending the Technology Acceptance Model (TAM) to explore customer's behavioral intention to use Self-Service Technologies (SSTs) in Chinese budget hotels
Cu-bearing stainless steel reduces cytotoxicity and crystals adhesion after ureteral epithelial cells exposing to calcium oxalate monohydrate
Variations in cyclin D1 levels through the cell cycle determine the proliferative fate of a cell
Fracture behavior and acoustic emission characteristics of sandstone samples with inclined precracks
Tensor stability in Born-Infeld determinantal gravity
Thick brane in Rastall gravity
Thick branes in Born–Infeld determinantal gravity in Weitzenböck spacetime
A braneworld model in a massive gravity
Breaking and mining-induced stress evolution of overlying strata in the working face of a steeply dipping coal seam