Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A.

Fu, Xinyu; Li, Shaojun; Zhao, Zhenhua; Kong, Lingrong; Zhu, Jingqi; Li, Huanyun; Feng, Jun; Tang, Weiqin; Wu, Di; Kong, Xiangdong

Fu, Xinyu; Li, Shaojun; Zhao, Zhenhua; Kong, Lingrong; Zhu, Jingqi; Li, Huanyun; Feng, Jun; Tang, Weiqin; Wu, Di; Kong, Xiangdong.

Afiliação

Fu X; Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Li S; Celula (China) Medical Technology Co., Ltd., Chengdu, China.
Zhao Z; Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Kong L; Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Zhu J; Department of Fetal Medicine & Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Li H; Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Feng J; Genetic and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Tang W; Celula (China) Medical Technology Co., Ltd., Chengdu, China.
Wu D; Celula (China) Medical Technology Co., Ltd., Chengdu, China.
Kong X; Celula (China) Medical Technology Co., Ltd., Chengdu, China.

Prenat Diagn ; 43(12): 1544-1555, 2023 11.

Article em En | MEDLINE | ID: mdl-37957774

Assuntos

Teste Pré-Natal não Invasivo; Gravidez; Feminino; Humanos; Lactente; Teste Pré-Natal não Invasivo/métodos; Haplótipos; Teorema de Bayes; Diagnóstico Pré-Natal/métodos

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Limite: Female / Humans / Infant / Pregnancy Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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