Abstract:
:The possible influence of the fragile X mutation at Xq27 on the expression of the neighbouring gene (at Xq26) for hypoxanthine phosphoribosyl transferase (HPRT) was studied by determination of the levels of HPRT-RNA and HPRT enzyme activity in fibroblast cell cultures from 7 fragile X patients. These levels were lower (although not statistically significantly lower) than in normal fibroblast cultures. Hence, these data do not support the notion of a major effect of the fragile X mutation on the expression of the HPRT gene.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Steen AM,Marcus S,Sahlén S,Nielsen KB,Lambert Bdoi
10.1007/BF00197177subject
Has Abstractpub_date
1991-08-01 00:00:00pages
503-5issue
4eissn
0340-6717issn
1432-1203journal_volume
87pub_type
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