A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

2012/05/02 by Mohammad Al-Haggar, Agnieszka Madej-Pilarczyk, Agnieszka Madej‐Pilarczyk +11 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Biology #Gene #Genetics #LMNA #Lamin #Microcephaly #Missense mutation #Mutation #Nuclear Structure and Function #Premature aging #Progeria #RNA Research and Splicing #Ubiquitin and proteasome pathways

paper · pdf · doi:10.1038/ejhg.2012.77

crossref issued 2012/05/02 · crossref published 2012/05/02 · crossref published-online 2012/05/02 · openalex publication_date 2012/05/02 · crossref created 2012/05/02 · crossref published-print 2012/11/01 · crossref deposited 2023/05/18 · openalex created_date 2025/10/10 · crossref indexed 2026/03/31 · openalex updated_date 2026/08/04

Citations

• DiANNA 1.1: an extension of the DiANNA web server for ternary cysteine classification
• Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
• Hutchinson–Gilford progeria syndrome: Review of the phenotype
• A Novel Homozygous Ala529ValLMNAMutation in Turkish Patients with Mandibuloacral Dysplasia
• Large‐scale prediction of disulphide bridges using kernel methods, two‐dimensional recursive neural networks, and weighted graph matching
• Prediction of protein stability changes for single‐site mutations using support vector machines
• Lamin A Truncation in Hutchinson-Gilford Progeria

Cited by

• Progeria [wikipedia]