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Identification of RP1 as the genetic cause of retinitis pigmentosa in a multi-generational pedigree using Extremely Low-Coverage Whole Genome Sequencing (XLC-WGS).
Lázaro-Guevara, José M; Flores-Robles, Bryan-Josué; Garrido-Lopez, Karen M; McKeown, Ryan J; Flores-Morán, Adriana E; Labrador-Sánchez, Eztizen; Pinillos-Aransay, Valvanera; Trasahedo, Estibaliz A; López-Martín, Juan-Antonio; Soberanis, Laura Sofía Reyna; Melgar, Mariano Yee; Téllez-Arreola, José Luis; Thébault, Stéphanie C.
Afiliação
  • Lázaro-Guevara JM; Department of Human Genetics, University of Utah, Salt Lake City, UT 84132, USA; Department of Botany and Biodiversity Research Centre, University of British Columbia, Vancouver, BC V6T 1Z4, Canada; Facultad de ingeniería, Universidad de San Carlos de Guatemala, Guatemala 10012, Guatemala.
  • Flores-Robles BJ; Department of Rheumatology, San Pedro Hospital, Logroño 26001, Spain.
  • Garrido-Lopez KM; Guatemalan Social Secure Institute, Pediatrics Department, Guatemala.
  • McKeown RJ; Molecular Biosciences, Northwestern University, Evanston, IL 60208, USA; Interdisciplinary Biological Sciences Program, Northwestern University, Evanston, IL 60208, USA.
  • Flores-Morán AE; Unit for Basic and Applied Microbiology, School of Natural Sciences, Autonomous University of Querétaro, Querétaro, Mexico.
  • Labrador-Sánchez E; Department of Rheumatology, San Pedro Hospital, Logroño 26001, Spain.
  • Pinillos-Aransay V; Department of Rheumatology, San Pedro Hospital, Logroño 26001, Spain.
  • Trasahedo EA; Department of Rheumatology, San Pedro Hospital, Logroño 26001, Spain.
  • López-Martín JA; Department of Rheumatology, San Pedro Hospital, Logroño 26001, Spain.
  • Soberanis LSR; Visualiza clinics, Guatemala.
  • Melgar MY; Visualiza clinics, Guatemala.
  • Téllez-Arreola JL; Molecular Biosciences, Northwestern University, Evanston, IL 60208, USA; Instituto de Neurobiología, Universidad Nacional Autónoma de México (UNAM), Campus UNAM-Juriquilla, 76230 Querétaro, Mexico. Electronic address: sirjlister@comunidad.unam.mx.
  • Thébault SC; Instituto de Neurobiología, Universidad Nacional Autónoma de México (UNAM), Campus UNAM-Juriquilla, 76230 Querétaro, Mexico. Electronic address: sthebault@comunidad.unam.mx.
Gene ; 851: 146956, 2023 Jan 30.
Article em En | MEDLINE | ID: mdl-36341727
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho Limite: Humans Idioma: En Revista: Gene Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Guatemala País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Proteínas do Olho Limite: Humans Idioma: En Revista: Gene Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Guatemala País de publicação: Holanda