(Q46558870)

23 December 2017

title

A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy (English)

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23 December 2017

author name string

Y Mashima

1

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23 December 2017

R G Weleber

2

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23 December 2017

N G Kennaway

3

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23 December 2017

G Inana

4

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23 December 2017

publication date

1 November 1992

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23 December 2017

published in

Human Genetics

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23 December 2017

volume

90

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23 December 2017

issue

3

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23 December 2017

page(s)

305-307

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23 December 2017

https://scigraph.springernature.com/pub.10.1007/bf00220086

exact match

0 references

cites work

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

1 reference

12 December 2020

Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina

1 reference

12 December 2020

Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency

1 reference

12 December 2020

Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina

1 reference

12 December 2020

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy

1 reference

12 December 2020

Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6.

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12 December 2020

Expression defect of ornithine aminotransferase gene in gyrate atrophy

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12 December 2020

Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy

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12 December 2020

Characterization of a splicing mutation in group A xeroderma pigmentosum

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12 December 2020

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy

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12 December 2020

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

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12 December 2020

Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene

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12 December 2020

An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina

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12 December 2020

Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy

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12 December 2020

A novel mutation in the invariant AG of the acceptor splice site of intron 4 of the beta-hexosaminidase alpha-subunit gene in two unrelated American black GM2-gangliosidosis (Tay-Sachs disease) patients

1 reference

12 December 2020

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00220086

1 reference

23 December 2017

1 reference

23 December 2017