Analysis of TSC2 gene mutational in tuberous sclerosis complex / 临床神经病学杂志
Journal of Clinical Neurology
;
(6)1993.
Article
in Chinese
| WPRIM
| ID: wpr-592006
ABSTRACT
Objective To analyse the mutation of pathogenic gene TSC2 in tuberous sclerosis complex (TSC). Methods Using polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP), all the 41 exons of TSC2 gene were analyzed in 4 TSC cases(include 1 suspect case) from one family and 1 sporadic TSC case ,and compared with the kin familial controls and kinless normal controls. Results Missense mutation on exon33 1346S→P (4037T→C) of TSC2 was found in 4 familial cases, and no mutation of TSC2 gene was found in the sporadic case and all the health controls. Conclusion Missense mutation on exon33 (1346S→P,4037T→C)is a new discovery in TSC2 gene of patients with TSC.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Journal of Clinical Neurology
Year:
1993
Type:
Article
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