Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, metaphyseal dysplasia, anemia, immune deficiency, and increased incidence of cancer. Molecular diagnosis of C...

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Detalles Bibliográficos
Autores principales: Bonafé, Luisa, Dermitzakis, Emmanouil T, Unger, Sheila, Greenberg, Cheryl R, Campos-Xavier, Belinda A, Zankl, Andreas, Ucla, Catherine, Antonarakis, Stylianos E, Superti-Furga, Andrea, Reymond, Alexandre
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1262189/
https://www.ncbi.nlm.nih.gov/pubmed/16244706
http://dx.doi.org/10.1371/journal.pgen.0010047

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1262189/
https://www.ncbi.nlm.nih.gov/pubmed/16244706
http://dx.doi.org/10.1371/journal.pgen.0010047

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