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

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

15 Oct 2019

Abstract excerpt

BACKGROUND: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncating mutations. The aim of this study is to better characterize the clinical features and mutation spectrum of Chinese BHDS...

Read the complete abstract on PubMed

Topics

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

Share to Bladder and Urothelial Cancer Treatments
Share to Renal cell carcinoma treatment
Share to Tuberous Sclerosis Complex Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31615547
DOI: 10.1186/s13023-019-1198-y

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variantsPMID 31615547Read ↗

Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.Semantic proximity Read ↗

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.Semantic proximity Read ↗

Clinical Characteristics and Genetic Analysis of a Chinese Family with Birt–Hogg–Dubé Syndrome Harboring a Novel FLCN Gene MutationSemantic proximity Read ↗

A novel mutation in the FLCN gene in a chinese family with Birt-Hogg-Dubé(BHD) syndromeSemantic proximity Read ↗

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

A special case study of Birt–Hogg–Dubé syndromeSemantic proximity Read ↗

First published report of the FLCN c.1222 C > T (p.Gln408Ter) variant in a Chinese family with Birt-Hogg-Dubé syndrome and literature review.Semantic proximity Read ↗

BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.Semantic proximity Read ↗

Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndromeSemantic proximity Read ↗

Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature.Semantic proximity Read ↗

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