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Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Zanetti, Alessandra; D'Avanzo, Francesca; AlSayed, Moeenaldeen; Brusius-Facchin, Ana Carolina; Chien, Yin-Hsiu; Giugliani, Roberto; Izzo, Emanuela; Kasper, David C; Lin, Hsiang-Yu; Lin, Shuan-Pei; Pollard, Laura; Singh, Akashdeep; Tonin, Rodolfo; Wood, Tim; Morrone, Amelia; Tomanin, Rosella.
Afiliación
  • Zanetti A; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padova, Italy.
  • D'Avanzo F; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Padova, Italy.
  • AlSayed M; Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padova, Italy.
  • Brusius-Facchin AC; Fondazione Istituto di Ricerca Pediatrica Città della Speranza, Padova, Italy.
  • Chien YH; King Faisal Specialist Hospital and Research Centre, Faculty of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Giugliani R; Medical Genetics Service/HCPA, DR BRASIL Research Group/HCPA, and INAGEMP, Porto Alegre, Brazil.
  • Izzo E; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
  • Kasper DC; Department of Genetics/UFRGS, Medical Genetics Service/HCPA, DR BRASIL Research Group/HCPA, and INAGEMP, Porto Alegre, Brazil.
  • Lin HY; BioMarin Pharmaceutical Inc., Novato, California, USA.
  • Lin SP; ARCHIMED Life Science GmbH, Vienna, Austria.
  • Pollard L; Division of Genetics and Metabolism, Departments of Pediatrics and Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
  • Singh A; Division of Genetics and Metabolism, Departments of Pediatrics and Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
  • Tonin R; Biochemical Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Wood T; BioMarin Pharmaceutical Inc., Novato, California, USA.
  • Morrone A; Molecular and Cell Biology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children's Hospital, Florence, Italy.
  • Tomanin R; Department of Neurosciences, Psychology, Pharmacology and Child Health, University of Florence, Florence, Italy.
Hum Mutat ; 42(11): 1384-1398, 2021 11.
Article en En | MEDLINE | ID: mdl-34387910
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Condroitinsulfatasas / Mucopolisacaridosis IV / Mutación Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Italia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Condroitinsulfatasas / Mucopolisacaridosis IV / Mutación Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Italia