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 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online.

Human mutation - 1 Jan 1999

Perez A B, Pereira L V, Brunoni D, Zatz M, Passos-Bueno M R

Abstract excerpt

Marfan Syndrome (MFS) is a connective tissue disease caused by mutations in the fibrillin-1 FBN1) gene. Screening for mutations in all the 65 exons of the FBN1 gene in 34 unrelated patients were performed to compare the efficiency of SSCP versus Heteroduplex analysis and to verify if the spectrum...

Read the complete abstract on PubMed

Topics

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

Share to Brazil
Share to Exons
Share to Fibrillin-1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibrillins

Share to Genetic Testing

Share to Marfan Syndrome

Share to Microfilament Proteins

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 10189222
DOI: 10.1002/(SICI)1098-1004(1999)13:1<84::AID-HUMU15>3.0.CO;2-U

Genes

EGF
FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10189222-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of 8 new mutations in Brazilian families with Marfan syndrome. Mutations in brief no. 211. Online.PMID 10189222Read ↗

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.Semantic proximity Read ↗

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.Semantic proximity Read ↗

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.Semantic proximity Read ↗

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.Semantic proximity Read ↗

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.Semantic proximity Read ↗

A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene.Semantic proximity Read ↗

Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.Semantic proximity Read ↗

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.Semantic proximity Read ↗

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.Semantic proximity Read ↗

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.Semantic proximity Read ↗

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome.Semantic proximity Read ↗

A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online.Semantic proximity Read ↗

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