ScholarLens Back to search
2023•PubMedRequires access

[Genetic analysis of a family with hereditary hemorrhagic telangiectasia caused by endoglin gene mutation].

J L, Zheng Zhou, Yutao Li, Chen‐Yu Zhang, Fuyi Duan, G M Wang

Open publisher page 0 citations

Abstract

gene c.579_ 599del mutation may be the genetic basis of HHT in this family.

About this research paper

What this paper is about

gene c.579_ 599del mutation may be the genetic basis of HHT in this family.

Why it matters

A significance statement is not available in the OpenAlex record.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

gene c.579_ 599del mutation may be the genetic basis of HHT in this family.

Key concepts: Proband, Sanger sequencing, Medicine, Telangiectasia, Daughter, Exome sequencing, Mutation, Genetics

Related papers

Related paper 1Related paper 2Related paper 3
Back to paper searchBrowse research topicsOriginal source
[Genetic analysis of a family with hereditary hemorrhagic telangiectasia caused by endoglin gene mutation]. — Research Paper | ScholarLens