Inosin-5'-Monophosphate-Dehydrogenase 1

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Natsumeda Y et al. (1990) Two distinct cDNAs for human IMP dehydrogenase.

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Gu JJ et al. (1994) Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32).

Doggett NA et al. (1993) Identification and regional localization of a human IMP dehydrogenase-like locus (IMPDHL1) at 16p13.13.

Kennan A et al. (2002) Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.

Bowne SJ et al. (2002) Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Aherne A et al. (2004) On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

Wada Y et al. (2005) Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.

Bischof JM et al. (2006) Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

Coussa RG et al. (2015) Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

NCBI article

OMIM.ORG article

Orphanet article