Llwytho...

Autosomal dominant retinitis pigmentosa mutations in inosine 5′-monophosphate dehydrogenase type I disrupt nucleic acid binding

Two mutations of IMPDH1 (inosine 5′-monophosphate dehydrogenase type I), R224P and D226N, have recently been found to cause adRP (autosomal dominant retinitis pigmentosa). IMPDH1 catalyses the rate-limiting step in guanine nucleotide biosynthesis and also binds single-stranded nucleic acids. In the...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Mortimer, Sarah E., Hedstrom, Lizbeth
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Portland Press Ltd. 2005
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1184561/
https://ncbi.nlm.nih.gov/pubmed/15882147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20042051
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