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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-31816153
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Coloboma / Receptors, Retinoic Acid / DNA-Binding Proteins / Protein Interaction Domains and Motifs / High-Throughput Nucleotide Sequencing / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Animals / Child / Female / Humans / Infant / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Coloboma / Receptors, Retinoic Acid / DNA-Binding Proteins / Protein Interaction Domains and Motifs / High-Throughput Nucleotide Sequencing / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Animals / Child / Female / Humans / Infant / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Type: Article