IDENTIFICATION OF A NEW MISSENSE MUTATION IN EXON-2 OF THE HUMAN HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE GENE (HPRTI(ISAR)) - A FURTHER EXAMPLE OF CLINICAL HETEROGENEITY IN HPRT DEFICIENCIES

Authors
BURGEMEISTER R ROTZER E GUTENSOHN W GEHRKE M SCHIEL W
Citation
R. Burgemeister et al., IDENTIFICATION OF A NEW MISSENSE MUTATION IN EXON-2 OF THE HUMAN HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE GENE (HPRTI(ISAR)) - A FURTHER EXAMPLE OF CLINICAL HETEROGENEITY IN HPRT DEFICIENCIES, Human mutation, 5(4), 1995, pp. 341-344
Citations number
22
Categorie Soggetti
Genetics & Heredity
Journal title
Human mutation → ACNP
ISSN journal
10597794
Volume
5
Issue
4
Year of publication
1995
Pages
341 - 344
Database
ISI
SICI code
1059-7794(1995)5:4<341:IOANMM>2.0.ZU;2-Z