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Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.
Upadhyai, Priyanka; Radhakrishnan, Periyasamy; Guleria, Vishal S; Kausthubham, Neethukrishna; Nayak, Shalini S; Superti-Furga, Andrea; Girisha, Katta M.
Afiliación
  • Upadhyai P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Guleria VS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Kausthubham N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Hum Mutat ; 42(8): 1005-1014, 2021 08.
Article en En | MEDLINE | ID: mdl-34057271
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Acondroplasia Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: India
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Acondroplasia Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: India