Carregant...

Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis

We report maternal uniparental disomy of chromosome 17 (mat UPD17) in a 2.5-year-old girl presenting infantile cystinosis. This patient was homozygous for the 57 kb deletion encompassing the CTNS gene, frequently found in patients from the European origin. The proband's mother was heterozygous...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Lebre, Anne-Sophie, Morinière, Vincent, Dunand, Olivier, Bensman, Albert, Morichon-Delvallez, Nicole, Antignac, Corinne
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986554/
https://ncbi.nlm.nih.gov/pubmed/19259134
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.13
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!