MAPPING OF THE HUMAN ADENYLOSUCCINATE LYASE (ADSL) GENE TO CHROMOSOME22Q13.1-]Q13.2

Authors
FON EA DEMCZUK S DELATTRE O THOMAS G ROULEAU GA
Citation
Ea. Fon et al., MAPPING OF THE HUMAN ADENYLOSUCCINATE LYASE (ADSL) GENE TO CHROMOSOME22Q13.1-]Q13.2, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 201-203
Citations number
10
Categorie Soggetti
Cytology & Histology","Genetics & Heredity
Journal title
Cytogenetics and cell genetics → ACNP
ISSN journal
03010171
Volume
64
Issue
3-4
Year of publication
1993
Pages
201 - 203
Database
ISI
SICI code
0301-0171(1993)64:3-4<201:MOTHAL>2.0.ZU;2-4
Abstract
Adenylosuccinate lyase (ADSL) is an essential enzyme involved in de no vo 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 si tu hybridization, we have precisely localized the human ADSL gene to c hromosome 22q13.1 --> q13.2.