Tuberous sclerosis complex case series with novel duplication mutations of TSC2.

Lee, Jong-Mok; Kim, Ju-Hyun; Choi, Seock Hwan

Lee, Jong-Mok; Kim, Ju-Hyun; Choi, Seock Hwan.

Afiliação

Lee JM; Department of Neurology, Kyungpook National University Hospital, Daegu, Korea.
Kim JH; Department of Neurology, Gyeongsan Joongang Hospital, Gyeongsan, Korea.
Choi SH; Department of Urology, School of Medicine, Kyungpook National University, Daegu, Korea. Electronic address: skhwan.script@gmail.com.

Clin Neurol Neurosurg ; 186: 105498, 2019 Nov.

Article em En | MEDLINE | ID: mdl-31542468

Assuntos

Mutação/genética; Proteína 2 do Complexo Esclerose Tuberosa/genética; Esclerose Tuberosa/diagnóstico por imagem; Esclerose Tuberosa/genética; Adulto; Feminino; Humanos; Adulto Jovem

Palavras-chave

Angiomyolipoma; Insertion mutation; Lymphangioleiomyomatosis; Tuberous sclerosis complex 1 protein; Tuberous sclerosis complex 2 protein

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esclerose Tuberosa / Proteína 2 do Complexo Esclerose Tuberosa / Mutação Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google