Directional Next-Generation RNA Sequencing and Examination of Premature Termination Codon Mutations in Endoglin/Hereditary Haemorrhagic Telangiectasia

Publisher： Karger

E-ISSN： 1661-8777|4|4|184-196

ISSN： 1661-8769

Source： Molecular Syndromology, Vol.4, Iss.4, 2013-04, pp. : 184-196

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1

By Pece-Barbara Nadia   Cymerman Urszula   Vera Sonia   Marchuk Douglas A.   Letarte Michelle  

Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2171-2181

Oxford University Press

Access to resources Recommend Favorite

Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology

By  

Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 6, 2015-11 ,pp. : 500-512

John Wiley & Sons Inc

Access to resources Recommend Favorite

Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

By  

Molecular Genetics & Genomic Medicine, Vol. 4, Iss. 2, 2016-03 ,pp. : 211-222

John Wiley & Sons Inc

Access to resources Recommend Favorite

Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next‐generation sequencing

By  

Molecular Genetics & Genomic Medicine, Vol. 3, Iss. 2, 2015-03 ,pp. : 121-129

John Wiley & Sons Inc

Access to resources Recommend Favorite

Capture‐based next‐generation sequencing reveals multiple actionable mutations in cancer patients failed in traditional testing

By  

Molecular Genetics & Genomic Medicine, Vol. 4, Iss. 3, 2016-05 ,pp. : 262-272

John Wiley & Sons Inc

Access to resources Recommend Favorite