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Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Gnanasekaran, Harshavardhini; Chandrasekhar, Sathya Priya; Kandeeban, Suganya; Periyasamy, Porkodi; Bhende, Muna; Khetan, Vikas; Gupta, Neerja; Kabra, Madhulika; Namboothri, Sheela; Sen, Parveen; Sripriya, Sarangapani.
Afiliación
  • Gnanasekaran H; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, Tamilnadu, India.
  • Chandrasekhar SP; School of Chemical and Biotechnology, SASTRA University, Thanjavur, Tamilnadu, India.
  • Kandeeban S; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, Tamilnadu, India.
  • Periyasamy P; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, Tamilnadu, India.
  • Bhende M; School of Chemical and Biotechnology, SASTRA University, Thanjavur, Tamilnadu, India.
  • Khetan V; SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, Tamilnadu, India.
  • Gupta N; Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India.
  • Kabra M; Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India.
  • Namboothri S; Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamilnadu, India.
  • Sen P; Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamilnadu, India.
  • Sripriya S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.
Clin Genet ; 104(4): 443-460, 2023 10.
Article en En | MEDLINE | ID: mdl-37431782
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Bardet-Biedl / Ciliopatías Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: India
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Bardet-Biedl / Ciliopatías Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: India