An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.
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Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenaseGenomic organization and complete sequence of the human gene encoding the beta-subunit of the cGMP phosphodiesterase and its localisation to 4p 16.3OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retinaLinkage analysis of Norrie disease with X-chromosomal ornithine aminotransferaseMolecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesFinnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families.Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutationRetinal risks of high-dose ornithine supplements: a review.Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.Human gene mutations affecting RNA processing and translation.Messages from an isolate: lessons from the Finnish gene pool.Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.Genetics in Ophthalmology
P2860
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P2860
An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
1988年论文
@zh
1988年论文
@zh-cn
name
An initiator codon mutation in ...... phy of the choroid and retina.
@ast
An initiator codon mutation in ...... phy of the choroid and retina.
@en
type
label
An initiator codon mutation in ...... phy of the choroid and retina.
@ast
An initiator codon mutation in ...... phy of the choroid and retina.
@en
prefLabel
An initiator codon mutation in ...... phy of the choroid and retina.
@ast
An initiator codon mutation in ...... phy of the choroid and retina.
@en
P2093
P2860
P356
P1476
An initiator codon mutation in ...... phy of the choroid and retina.
@en
P2093
G A Mitchell
M Kaiser-Kupfer
M Suchanek
V Der Kaloustian
P2860
P304
P356
10.1172/JCI113365
P407
P577
1988-02-01T00:00:00Z