Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

POLR3-related (or 4H) leukodystrophy is an autosomal recessive disorder caused by mutations in POLR3A or POLR3B and is characterized by neurological and non-neurological features. In a small proportion of patients, no mutation in either gene or only one mutation is found. Analysis of the POLR3B cDNA...

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Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á., Tran, Luan T., Benko, William, van der Knaap, Marjo S., van Spaendonk, Rosalina M. L., Wolf, Nicole I., Bernard, Geneviève
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Letter to the Editor
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4520020/
https://ncbi.nlm.nih.gov/pubmed/26045207
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0279-9
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