Genetic analysis of a mosaic case with low proportion mutation of / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 586-590, 2020.
Article
Dans Chinois
| WPRIM
| ID: wpr-879916
ABSTRACT
OBJECTIVE@#To perform gene mutation analysis in a patient with atypical clinical manifestations of tuberous sclerosis (TSC) for definite diagnosis.@*METHODS@#Peripheral blood DNA was obtained from a patient with clinically suspected TSC and her parents, and all exons and their flanking sequences of @*RESULTS@#A heterozygous nonsense mutation c.1096G>T (p.E366*) was identified in the exon 11 of the @*CONCLUSIONS@#The somatic mosaic mutation c.1096G>T (p.e366*) may be responsible for the phenotype of TSC in this patient. And the drop digital PCR is expected to be a diagnostic method for somatic cells mosaicism.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Complexe de la sclérose tubéreuse
/
/
Protéine-2 du complexe de la sclérose tubéreuse
/
Mosaïcisme
/
Mutation
Limites du sujet:
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Journal of Zhejiang University. Medical sciences
Année:
2020
Type:
Article
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