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Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2

机译:Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2

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Adenylosuccinate lyase (ADSL) is an essential enzyme involved in de novo purine biosynthesis. A deficiency in ADSL in humans has been shown to predispose to a neuro-developmental syndrome with autistic features. Using both a somatic cell hybrid mapping panel and fluorescence in situ hybridization, we have precisely localized the human ADSL gene to chromosome 22q13.1→q13.2.
机译:腺苷琥珀酸裂解酶 (ADSL) 是一种参与从头嘌呤生物合成的必需酶。人类 ADSL 缺乏已被证明易患具有自闭症特征的神经发育综合征。使用体细胞杂交定位图谱和荧光原位杂交,我们将人类ADSL基因精确定位到染色体22q13.1→q13.2。

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