Novel p.G1344E mutation in <i>FBN1</i> is associated with ectopia lentis.

Yang, Yuan; Zhou, Ya-Li; Yao, Teng-Teng; Pan, Hui; Gu, Ping; Wang, Zhao-Yang

Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.

Yang, Yuan; Zhou, Ya-Li; Yao, Teng-Teng; Pan, Hui; Gu, Ping; Wang, Zhao-Yang.

Afiliação

Yang Y; Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Zhou YL; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China.
Yao TT; Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Pan H; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China.
Gu P; Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Wang ZY; Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, China.

Br J Ophthalmol ; 105(3): 341-347, 2021 03.

Article em En | MEDLINE | ID: mdl-32404357

Assuntos

DNA/genética; Ectopia do Cristalino/genética; Fibrilina-1/genética; Mutação; Análise Mutacional de DNA; Ectopia do Cristalino/metabolismo; Feminino; Fibrilina-1/metabolismo; Estudos de Associação Genética; Genótipo; Humanos; Masculino; Pessoa de Meia-Idade; Linhagem; Fenótipo

Palavras-chave

genetics; glaucoma; lens and zonules

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA / Ectopia do Cristalino / Fibrilina-1 / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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