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Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis.
Udupa, Prajna; Ghosh, Debasish Kumar; Kausthubham, Neethukrishna; Shah, Hitesh; Bartakke, Sandip; Dalal, Ashwin; Girisha, Katta M; Bhavani, Gandham SriLakshmi.
Afiliação
  • Udupa P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Ghosh DK; 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.
  • Shah H; Department of Pediatric Orthopedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Bartakke S; Department of Clinical Hematology, Aditya Birla Memorial Hospital, Pune, India.
  • Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. gsl.bhavani@manipal.edu.
J Hum Genet ; 68(4): 287-290, 2023 Apr.
Article em En | MEDLINE | ID: mdl-36526684
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteopetrose Limite: Child, preschool / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteopetrose Limite: Child, preschool / Humans / Male Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Índia