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  • Mutations in the glycine receptor α1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C

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Mutations in the glycine receptor α1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C

Authors

  • John B J Kwok aGarvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia, bLaboratorio Genetika, Alameda Augusto Stellfeld 1516, Curitiba, Parana 80730-150, Brazil, cDepartment of Medical Genetics, Prince of Wales Children's Hospital, High Street, Randwick, Sydney, NSW 2031, Australia, dDivision of Neuropediatrics, Pediatrics Department, Hospital das Clinicas, Universidade Federal do Parano, Curitiba, Parana 80730-150 Brazil PubMed articlesGoogle scholar articles
  • Salmo Raskin aGarvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia, bLaboratorio Genetika, Alameda Augusto Stellfeld 1516, Curitiba, Parana 80730-150, Brazil, cDepartment of Medical Genetics, Prince of Wales Children's Hospital, High Street, Randwick, Sydney, NSW 2031, Australia, dDivision of Neuropediatrics, Pediatrics Department, Hospital das Clinicas, Universidade Federal do Parano, Curitiba, Parana 80730-150 Brazil PubMed articlesGoogle scholar articles
  • Graeme Morgan aGarvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia, bLaboratorio Genetika, Alameda Augusto Stellfeld 1516, Curitiba, Parana 80730-150, Brazil, cDepartment of Medical Genetics, Prince of Wales Children's Hospital, High Street, Randwick, Sydney, NSW 2031, Australia, dDivision of Neuropediatrics, Pediatrics Department, Hospital das Clinicas, Universidade Federal do Parano, Curitiba, Parana 80730-150 Brazil PubMed articlesGoogle scholar articles
  • Sergio Antonio Antoniuk aGarvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia, bLaboratorio Genetika, Alameda Augusto Stellfeld 1516, Curitiba, Parana 80730-150, Brazil, cDepartment of Medical Genetics, Prince of Wales Children's Hospital, High Street, Randwick, Sydney, NSW 2031, Australia, dDivision of Neuropediatrics, Pediatrics Department, Hospital das Clinicas, Universidade Federal do Parano, Curitiba, Parana 80730-150 Brazil PubMed articlesGoogle scholar articles
  • Isac Bruk aGarvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia, bLaboratorio Genetika, Alameda Augusto Stellfeld 1516, Curitiba, Parana 80730-150, Brazil, cDepartment of Medical Genetics, Prince of Wales Children's Hospital, High Street, Randwick, Sydney, NSW 2031, Australia, dDivision of Neuropediatrics, Pediatrics Department, Hospital das Clinicas, Universidade Federal do Parano, Curitiba, Parana 80730-150 Brazil PubMed articlesGoogle scholar articles
  • Peter R Schofield aGarvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia, bLaboratorio Genetika, Alameda Augusto Stellfeld 1516, Curitiba, Parana 80730-150, Brazil, cDepartment of Medical Genetics, Prince of Wales Children's Hospital, High Street, Randwick, Sydney, NSW 2031, Australia, dDivision of Neuropediatrics, Pediatrics Department, Hospital das Clinicas, Universidade Federal do Parano, Curitiba, Parana 80730-150 Brazil PubMed articlesGoogle scholar articles
  1. Professor Schofield, p.schofield{at}garvan.unsw.edu.au
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Citation

Kwok JBJ, Raskin S, Morgan G, et al
Mutations in the glycine receptor α1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C
Journal of Medical Genetics 2001;38:e17.

Publication history

  • First published June 1, 2001.
Online issue publication 
March 15, 2021

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Journal of Medical Genetics