换一批
换一批Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.
作者：
关键词
3DAABIAdenineApplied BiosystemsCCysCysteineCytosineDNADegree CelsiusDeoxyribose Nucleic AcidDuplicationExo-SAPExonuclease-Shrimp Alcaline PhosphataseFrameshiftGGuanineKClKbKilobaseLeuLeucineLigand-binding sites predictionLysLysineMIMMagnesium chlorideMendelian Inheritance in ManMgCl2MicroliterMicromole per literMillimolarNeonatal diagnosisNovel mutationPCRPicomolePolymerase Chain ReactionPotassium ChlorideProProlineProteinRichner–Hanhart syndromeSecondTTaqThermus aquaticusThree-dimensionalThymineTris(hydroxymethyl)aminomethane hydrochlorideTris–HClTrpTryptophanTunisian familiesTyrTyrosinedupfsmMppmolsμLμmol/L
主题词
氨基酸序列(Amino Acid Sequence);儿童, 学龄前(Child, Preschool);近亲(Consanguinity);膳食, 限制蛋白质(Diet, Protein-Restricted);基因, tat(Genes, tat);人类(Humans);婴儿(Infant);角膜炎(Keratitis);男(雄)性(Male);分子序列数据(Molecular Sequence Data);突变, 误义(Mutation, Missense);系谱(Pedigree);蛋白质构象(Protein Conformation);突尼斯(Tunisia);酪氨酸转氨酶(Tyrosine Transaminase);酪氨酸血症(Tyrosinemias)
DOI
10.1016/j.gene.2013.07.066
PMID
23954227
发布时间
2013-09-09
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Gene
45-9页
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