MAPPING OF THE HUMAN ADENYLOSUCCINATE LYASE (ADSL) GENE TO CHROMOSOME 22Q13.1-]Q13.2

被引：28

作者：

FON, EA

DEMCZUK, S

DELATTRE, O

THOMAS, G

ROULEAU, GA

机构：

[1] MCGILL UNIV,MONTREAL GEN HOSP,RES INST,1650 CEDAR AVE,MONTREAL H3G 1A4,PQ,CANADA

[2] INST CURIE,F-75231 PARIS 05,FRANCE

[3] MCGILL UNIV,CTR RES NEUROSCI,MONTREAL H3G 1A4,PQ,CANADA

来源：

CYTOGENETICS AND CELL GENETICS | 1993年 / 64卷 / 3-4期

关键词：

D O I：

10.1159/000133575

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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 neurodevelopmental 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.

引用

页码：201 / 203

页数：3

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