Classical and Neonatal Marfan Syndrome Mutations in Fibrillin-1 Cause Differential Protease Susceptibilities and Protein Function

Journal of Biological Chemistry - United States
doi 10.1074/jbc.m111.221804
Full Text
Abstract

Available in full text

Date
Authors
Publisher

American Society for Biochemistry & Molecular Biology (ASBMB)

Related search

Double Mutant Fibrillin-1 (FBN1) Allele in a Patient With Neonatal Marfan Syndrome.

Journal of Medical Genetics
Genetics
1996English

Marfan Syndrome: Fibrillin Expression and Microfibrillar Abnormalities in a Family With Predominant Ocular Defects.

Journal of Medical Genetics
Genetics
1995English

Microcornea and Subluxated Lenses Due to a Splicing Error in the Fibrillin-1 Gene in a Patient With Marfan Syndrome

Archives of Ophthalmology
2003English

Fibrillin-1 Mutations Causing Weill-Marchesani Syndrome and Acromicric and Geleophysic Dysplasias Disrupt Heparan Sulfate Interactions

PLoS ONE
Multidisciplinary
2012English

A Nonsense Mutation in the Fibrillin-1 Gene of a Marfan Syndrome Patient Induces NMD and Disrupts an Exonic Splicing Enhancer

Genes and Development
GeneticsDevelopmental Biology
2002English

A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome

Archives of Pediatrics & Adolescent Medicine
2002English

Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics
Genetics
2010English

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Diagnostic Pathology
Forensic MedicineMedicinePathologyHistology
2014English

LRIG2 Mutations Cause Urofacial Syndrome

American Journal of Human Genetics
Genetics
2013English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy