A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

BACKGROUND: A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene...

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Detalles Bibliográficos
Autores principales: Mir, Hina, Raza, Syed Irfan, Touseef, Muhammad, Memon, Mazhar Mustafa, Khan, Muhammad Nasim, Jaffar, Sulman, Ahmad, Wasim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3941482/
https://www.ncbi.nlm.nih.gov/pubmed/24571530
http://dx.doi.org/10.1186/1471-2350-15-25

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3941482/
https://www.ncbi.nlm.nih.gov/pubmed/24571530
http://dx.doi.org/10.1186/1471-2350-15-25

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