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Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis.
Sait, Haseena; Srivastava, Priyanka; Gupta, Neerja; Kabra, Madhulika; Kapoor, Seema; Ranganath, Prajnya; Rungsung, Ikrormi; Mandal, Kausik; Saxena, Deepti; Dalal, Ashwin; Roy, Ajitesh; Pabbati, Jayalakshmi; Phadke, Shubha R.
Afiliación
  • Sait H; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Srivastava P; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Kapoor S; Division of Genetics & Metabolism, Department of Pediatrics, LokNayak Hospital and Maulana Azad Medical College, New Delhi, India.
  • Ranganath P; Department of Medical Genetics,Nizam's Institute of Medical Sciences, Hyderabad, India.
  • Rungsung I; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Saxena D; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Roy A; Department of Endocrinology, Vivekananda Institute of Medical Sciences, Ramakrishna Mission Seva Pratishthan, Kolkata, India.
  • Pabbati J; Department of Pediatrics, Gandhi Medical College and Hospital, Secunderabad, India.
  • Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address: shubharaophadke@gmail.com.
Eur J Med Genet ; 64(7): 104235, 2021 Jul.
Article en En | MEDLINE | ID: mdl-33945887
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Catepsina K / Picnodisostosis / Frecuencia de los Genes Tipo de estudio: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: India Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Catepsina K / Picnodisostosis / Frecuencia de los Genes Tipo de estudio: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: India Pais de publicación: Países Bajos