Heterozygous Pathogenic and Likely Pathogenic Symptomatic <i>HTRA1</i> Variant Carriers in Cerebral Small Vessel Disease.

Xu, Sui-Yi; Li, Hui-Juan; Li, Shun; Ren, Qian-Qian; Liang, Jian-Lin; Li, Chang-Xin

Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease.

Xu, Sui-Yi; Li, Hui-Juan; Li, Shun; Ren, Qian-Qian; Liang, Jian-Lin; Li, Chang-Xin.

Afiliação

Xu SY; Department of Neurology, Headache Center, The First Hospital of Shanxi Medical University, Taiyuan, People's Republic of China.
Li HJ; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, People's Republic of China.
Li S; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, People's Republic of China.
Ren QQ; Department of Neurology, Headache Center, The First Hospital of Shanxi Medical University, Taiyuan, People's Republic of China.
Liang JL; Department of Neurology, Headache Center, The First Hospital of Shanxi Medical University, Taiyuan, People's Republic of China.
Li CX; Department of Neurology, Headache Center, The First Hospital of Shanxi Medical University, Taiyuan, People's Republic of China.

Int J Gen Med ; 16: 1149-1162, 2023.

Article em En | MEDLINE | ID: mdl-37016629

Palavras-chave

ACMG criteria; HTRA1 gene; heterozygous variant; stroke; symptomatic carrier

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Revista: Int J Gen Med Ano de publicação: 2023 Tipo de documento: Article

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