At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.
about
Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenaseDisease gene mapping in isolated human populations: the example of FinlandAspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginaseType 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patientIdentification of a common mutation in Finnish patients with nonketotic hyperglycinemiaLysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite populationMolecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibitionPhenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase geneLinkage analysis of Norrie disease with X-chromosomal ornithine aminotransferaseA system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.Database for the mutations of the Finnish disease heritage.Genetics of population isolates.Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening programPyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.Mapping the eye diseases.Ornithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.Genetic isolates in ophthalmic diseases.The polymerase chain reaction. Applications in dermatology.Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations.Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.Clinical applications of the polymerase chain reaction.
P2860
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P2860
At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.
description
1989 nî lūn-bûn
@nan
1989 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
At least two mutant alleles of ...... e choroid and retina in Finns.
@ast
At least two mutant alleles of ...... e choroid and retina in Finns.
@en
type
label
At least two mutant alleles of ...... e choroid and retina in Finns.
@ast
At least two mutant alleles of ...... e choroid and retina in Finns.
@en
prefLabel
At least two mutant alleles of ...... e choroid and retina in Finns.
@ast
At least two mutant alleles of ...... e choroid and retina in Finns.
@en
P2093
P2860
P356
P1476
At least two mutant alleles of ...... he choroid and retina in Finns
@en
P2093
G A Mitchell
J E Looney
M Kaiser-Kupfer
P2860
P304
P356
10.1073/PNAS.86.1.197
P407
P577
1989-01-01T00:00:00Z