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Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).
Bhai, Pratibha; Bijarnia-Mahay, Sunita; Puri, Ratna D; Saxena, Renu; Gupta, Deepti; Kotecha, Udhaya; Sachdev, Anil; Gupta, Dhiren; Vyas, Vyomesh; Agarwal, Divya; Jain, Vivek; Bansal, Rajeev K; Kumar, Tapisha G; Verma, Ishwar Chander.
Afiliación
  • Bhai P; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Bijarnia-Mahay S; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Puri RD; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Saxena R; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Gupta D; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Kotecha U; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Sachdev A; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Gupta D; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Vyas V; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Agarwal D; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Jain V; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Bansal RK; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Kumar TG; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
  • Verma IC; Institute of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.
Ann Hum Genet ; 82(5): 309-317, 2018 09.
Article en En | MEDLINE | ID: mdl-29774539
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Deficiencia de Fructosa-1,6-Difosfatasa Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Ann Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Deficiencia de Fructosa-1,6-Difosfatasa Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: Ann Hum Genet Año: 2018 Tipo del documento: Article País de afiliación: India Pais de publicación: Reino Unido