A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

BACKGROUND: The rare autosomal genetic disorder, Spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL), is reported to be caused by missense or splice site mutations in the human discoidin domain receptor 2 (DDR2) gene. Previously our group has established that tr...

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Detalles Bibliográficos
Autores principales: Al-Kindi, Adila, Kizhakkedath, Praseetha, Xu, Huifang, John, Anne, Sayegh, Abeer Al, Ganesh, Anuradha, Al-Awadi, Maha, Al-Anbouri, Lamya, Al-Gazali, Lihadh, Leitinger, Birgit, Ali, Bassam R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001364/
https://www.ncbi.nlm.nih.gov/pubmed/24725993
http://dx.doi.org/10.1186/1471-2350-15-42

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