Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2350
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly ; volume:17 ; number:1 ; day:3 ; month:12 ; year:2016 ; pages:1-5 ; date:12.2016
BMC medical genetics ; 17, Heft 1 (3.12.2016), 1-5, 12.2016
- Creator
-
Guo, Xingping
- Contributor
-
Song, Chunying
Shi, Yaping
Li, Hongxia
Meng, Weijing
Yuan, Qinzhao
Xue, Jinjie
Xie, Jun
Liang, Yunxia
Yuan, Yanan
Yu, Baofeng
Wang, Huaixiu
Chen, Yun
Qi, Lixin
Li, Xinmin
SpringerLink (Online service)
- DOI
-
10.1186/s12881-016-0355-6
- URN
-
urn:nbn:de:1111-201612224033
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:53 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
- Guo, Xingping
- Song, Chunying
- Shi, Yaping
- Li, Hongxia
- Meng, Weijing
- Yuan, Qinzhao
- Xue, Jinjie
- Xie, Jun
- Liang, Yunxia
- Yuan, Yanan
- Yu, Baofeng
- Wang, Huaixiu
- Chen, Yun
- Qi, Lixin
- Li, Xinmin
- SpringerLink (Online service)
Other Objects (12)
Synthesen und Eigenschaften neuartiger Polymethinfarbstoffe
Development of thermally stable nanofillers and their application in polyimide nanocomposites: synthesis, characterization, and properties
Application of optimized photovoltaic grid-connected control system based on modular multilevel converters
Effect of HIP Temperature on Microstructure and Creep Property of FGH95 Alloy
Tranexamic acid efficacy in geriatric hip fractures: impact of nutritional status on blood loss, transfusion rates, and safety
Analysis of the Factors that Influence Diagenesis in the Terminal Fan Reservoir of Fuyu Oil Layer in the Southern Songliao Basin, Northeast China
Abnormal methylation caused by folic acid deficiency in neural tube defects
Research progress of nanoparticles in diagnosis and treatment of hepatocellular carcinoma
A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report
An assessment of short–medium-term interventions using CAESAR-Lisflood in a post-earthquake mountainous area
Rac1/ROCK-driven membrane dynamics promote natural killer cell cytotoxicity via granzyme-induced necroptosis
Occupational stress: evidence from industries affected by COVID-19 in Japan
Synthesen und Eigenschaften neuartiger Polymethinfarbstoffe
Development of thermally stable nanofillers and their application in polyimide nanocomposites: synthesis, characterization, and properties
Application of optimized photovoltaic grid-connected control system based on modular multilevel converters
Effect of HIP Temperature on Microstructure and Creep Property of FGH95 Alloy
Tranexamic acid efficacy in geriatric hip fractures: impact of nutritional status on blood loss, transfusion rates, and safety
Analysis of the Factors that Influence Diagenesis in the Terminal Fan Reservoir of Fuyu Oil Layer in the Southern Songliao Basin, Northeast China
Abnormal methylation caused by folic acid deficiency in neural tube defects
Research progress of nanoparticles in diagnosis and treatment of hepatocellular carcinoma
A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report
An assessment of short–medium-term interventions using CAESAR-Lisflood in a post-earthquake mountainous area
Rac1/ROCK-driven membrane dynamics promote natural killer cell cytotoxicity via granzyme-induced necroptosis
Occupational stress: evidence from industries affected by COVID-19 in Japan
Synthesen und Eigenschaften neuartiger Polymethinfarbstoffe
Development of thermally stable nanofillers and their application in polyimide nanocomposites: synthesis, characterization, and properties
Application of optimized photovoltaic grid-connected control system based on modular multilevel converters
Effect of HIP Temperature on Microstructure and Creep Property of FGH95 Alloy
Tranexamic acid efficacy in geriatric hip fractures: impact of nutritional status on blood loss, transfusion rates, and safety
Analysis of the Factors that Influence Diagenesis in the Terminal Fan Reservoir of Fuyu Oil Layer in the Southern Songliao Basin, Northeast China
Abnormal methylation caused by folic acid deficiency in neural tube defects
Research progress of nanoparticles in diagnosis and treatment of hepatocellular carcinoma
A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report
An assessment of short–medium-term interventions using CAESAR-Lisflood in a post-earthquake mountainous area
Rac1/ROCK-driven membrane dynamics promote natural killer cell cytotoxicity via granzyme-induced necroptosis