Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2019

Rong Jialing, Dong Shiqi, Wang Chen, He Siying, Luo Jing, Li Menglan, Deng Qianyun, Yan Ming

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a pedigree affected with Marfan syndrome (MFS). METHODS: Clinical data of the patients was collected. With genomic DNA extracted from peripheral blood samples, potential mutation was detected by targeted exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis. RESULTS: Targeted exome sequencing and Sanger sequencing revealed a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA Mutational Analysis
Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Fibrillin-1

Share to Fibrillins

Share to Marfan Syndrome

Share to Mutation

Share to Mutation, Missense

Share to Pedigree

Source

Identifiers

PMID: 31703137
DOI: 10.3760/cma.j.issn.1003-9406.2019.11.013

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome].PMID 31703137Read ↗

[Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene].Semantic proximity Read ↗

A novel FBN1 mutation causes autosomal dominant Marfan syndrome.Semantic proximity Read ↗

[Screening of FBN1 gene mutations in a family with Marfan syndrome].Semantic proximity Read ↗

[Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene].Semantic proximity Read ↗

A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.Semantic proximity Read ↗

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.Semantic proximity Read ↗

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.Semantic proximity Read ↗

A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.Semantic proximity Read ↗

[A de novo mutation leading to Marfan syndrome in a case].Semantic proximity Read ↗

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.Semantic proximity Read ↗

An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.Semantic proximity Read ↗

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.