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.
Artigo
em Chinês
| 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.
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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Esclerose Tuberosa
/
Sequenciamento do Exoma
/
Proteína 2 do Complexo Esclerose Tuberosa
/
Mosaicismo
/
Mutação
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Journal of Zhejiang University. Medical sciences
Ano de publicação:
2020
Tipo de documento:
Artigo
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