# Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/mandibuloacral-dysplasia-is-caused-by-a-mutation-in-lmna-encoding-lamin-a-c/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Giuseppe Novelli,Antoine Muchir,Federica Sangiuolo,A. Leclerc,Maria Rosaria D’Apice,Catherine Massart,Francesca Capon,Paolo Sbraccia,Massimo Federici,Renato Lauro,Cosimo Tudisco,R Pallotta,Gioacchino Scarano,Bruno Dallapiccola,Luciano Merlini,Gisèle Bonne |
| Citations | 535 |
| DOI | 10.1086/341908 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | http://www.cell.com/article/S0002929707604893/pdf |
| OpenAlex ID | https://openalex.org/W2006846732 |
| PMID | 12075506 |
| Type | article |
| Year | 2002 |

## Paper authors

- [Paolo Sbraccia](https://scholariq.org/researchers/paolo-sbraccia/)

## Paper primary topic

- [Nuclear Structure and Function](https://scholariq.org/topics/nuclear-structure-and-function/)

## Paper topics

- [Nuclear Structure and Function](https://scholariq.org/topics/nuclear-structure-and-function/)
- [RNA Research and Splicing](https://scholariq.org/topics/rna-research-and-splicing/)
- [RNA regulation and disease](https://scholariq.org/topics/rna-regulation-and-disease/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.