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A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation.
Peng, Cuiting; Chen, Han; Ren, Jun; Zhou, Fan; Li, Yutong; Keqie, Yuezhi; Ding, Taoli; Ruan, Jiangxing; Wang, He; Chen, Xinlian; Liu, Shanling.
Afiliación
  • Peng C; Center of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
  • Chen H; Laboratory of birth defects and related diseases of women and children, Sichuan university, Ministry of Education, Sichuan, China.
  • Ren J; Center of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
  • Zhou F; Laboratory of birth defects and related diseases of women and children, Sichuan university, Ministry of Education, Sichuan, China.
  • Li Y; Center of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
  • Keqie Y; Laboratory of birth defects and related diseases of women and children, Sichuan university, Ministry of Education, Sichuan, China.
  • Ding T; Center of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
  • Ruan J; Laboratory of birth defects and related diseases of women and children, Sichuan university, Ministry of Education, Sichuan, China.
  • Wang H; Center of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
  • Chen X; Laboratory of birth defects and related diseases of women and children, Sichuan university, Ministry of Education, Sichuan, China.
  • Liu S; Center of prenatal diagnosis, Department of Medical Genetics, West China Second University Hospital, Sichuan University, No17, Section 3, South Renmin Road, Chengdu, China.
BMC Genomics ; 24(1): 521, 2023 Sep 04.
Article en En | MEDLINE | ID: mdl-37667185
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Dominante / Diagnóstico Preimplantación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant Idioma: En Revista: BMC Genomics Asunto de la revista: GENETICA Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Riñón Poliquístico Autosómico Dominante / Diagnóstico Preimplantación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Infant Idioma: En Revista: BMC Genomics Asunto de la revista: GENETICA Año: 2023 Tipo del documento: Article País de afiliación: China