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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-29774539
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência de Frutose-1,6-Difosfatase Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: Ann Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Índia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiência de Frutose-1,6-Difosfatase Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn País/Região como assunto: Asia Idioma: En Revista: Ann Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Índia