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Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.
Owen, Nicholas; Toms, Maria; Young, Rodrigo M; Eintracht, Jonathan; Sarkar, Hajrah; Brooks, Brian P; Moosajee, Mariya.
Afiliação
  • Owen N; Development, Ageing and Disease, UCL Institute of Ophthalmology, London, United Kingdom.
  • Toms M; Development, Ageing and Disease, UCL Institute of Ophthalmology, London, United Kingdom.
  • Young RM; Development, Ageing and Disease, UCL Institute of Ophthalmology, London, United Kingdom.
  • Eintracht J; Development, Ageing and Disease, UCL Institute of Ophthalmology, London, United Kingdom.
  • Sarkar H; Development, Ageing and Disease, UCL Institute of Ophthalmology, London, United Kingdom.
  • Brooks BP; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD.
  • Moosajee M; Development, Ageing and Disease, UCL Institute of Ophthalmology, London, United Kingdom; Department of Genetics, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom;
Genet Med ; 24(5): 1073-1084, 2022 05.
Article em En | MEDLINE | ID: mdl-35034853

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coloboma / Microftalmia Tipo de estudo: Diagnostic_studies / Systematic_reviews Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coloboma / Microftalmia Tipo de estudo: Diagnostic_studies / Systematic_reviews Limite: Animals / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido