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Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.
Vishwanathan, Gurudatta Baraka; Srinivasa, Manoj; Batrani, Meenakshi; Kubba, Asha; Ghosh, Suparna; Gupta, Divya; Jayashankar, Charitha; Rai, Abhigna; Jangond, Ajith; Inamadar, Arun; Hiremagalore, Ravi.
Afiliação
  • Vishwanathan GB; Centre for Human Genetics, Biotech Park, Bangalore, Karnataka, India.
  • Srinivasa M; Centre for Human Genetics, Biotech Park, Bangalore, Karnataka, India.
  • Batrani M; Delhi Dermpath Laboratory, New Delhi, India.
  • Kubba A; Delhi Dermpath Laboratory, New Delhi, India.
  • Ghosh S; Centre for Human Genetics, Biotech Park, Bangalore, Karnataka, India.
  • Gupta D; Centre for Human Genetics, Biotech Park, Bangalore, Karnataka, India.
  • Jayashankar C; Department of Paediatrics and Dermatology, Manipal Hospital, Bangalore, Karnataka, India.
  • Rai A; Centre for Human Genetics, Biotech Park, Bangalore, Karnataka, India.
  • Jangond A; Centre for Human Genetics, Biotech Park, Bangalore, Karnataka, India.
  • Inamadar A; Department of Dermatology, Bangalore Medical College and Research Institute, Bangalore, Karnataka, India.
  • Hiremagalore R; Department of Dermatology, Sri BM Patil Medical College Hospital, BLDE Deemed to be University, Vijayapura, Karnataka, India.
Am J Med Genet A ; 188(8): 2454-2459, 2022 08.
Article em En | MEDLINE | ID: mdl-35579050

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Epidermólise Bolhosa Simples / Distrofias Musculares Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Epidermólise Bolhosa Simples / Distrofias Musculares Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia