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High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.
Kalaskar, Vijay K; Alur, Ramakrishna P; Li, LeeAnn K; Thomas, James W; Sergeev, Yuri V; Blain, Delphine; Hufnagel, Robert B; Cogliati, Tiziana; Brooks, Brian P.
Afiliação
  • Kalaskar VK; Pediatric, Developmental & Genetic Ophthalmology Section, Ophthalmic Genetics and Visual Function Branch (OGVFB), National Eye Institute (NEI), National Institutes of Health (NIH), Bethesda, Maryland.
  • Alur RP; Pediatric, Developmental & Genetic Ophthalmology Section, Ophthalmic Genetics and Visual Function Branch (OGVFB), National Eye Institute (NEI), National Institutes of Health (NIH), Bethesda, Maryland.
  • Li LK; Pediatric, Developmental & Genetic Ophthalmology Section, Ophthalmic Genetics and Visual Function Branch (OGVFB), National Eye Institute (NEI), National Institutes of Health (NIH), Bethesda, Maryland.
  • Thomas JW; National Institutes of Health Intramural Sequencing Center, National Human Genome Research Institute, NIH, Bethesda, Maryland.
  • Sergeev YV; Protein Biochemistry and Molecular Modeling Group, OGVFB, NEI, NIH, Bethesda, Maryland.
  • Blain D; Ophthalmic Clinical Genetics Section, OGVFB, NEI, NIH, Bethesda, Maryland.
  • Hufnagel RB; Medical Genetics and Ophthalmic Genomics Unit, OGVFB, NEI, NIH, Bethesda, Maryland.
  • Cogliati T; Pediatric, Developmental & Genetic Ophthalmology Section, Ophthalmic Genetics and Visual Function Branch (OGVFB), National Eye Institute (NEI), National Institutes of Health (NIH), Bethesda, Maryland.
  • Brooks BP; Pediatric, Developmental & Genetic Ophthalmology Section, Ophthalmic Genetics and Visual Function Branch (OGVFB), National Eye Institute (NEI), National Institutes of Health (NIH), Bethesda, Maryland.
Hum Mutat ; 41(3): 678-695, 2020 03.
Article em En | MEDLINE | ID: mdl-31816153
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coloboma / Receptores do Ácido Retinoico / Proteínas de Ligação a DNA / Domínios e Motivos de Interação entre Proteínas / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Coloboma / Receptores do Ácido Retinoico / Proteínas de Ligação a DNA / Domínios e Motivos de Interação entre Proteínas / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Animals / Child / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article