Literature DB >> 11389164

Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C.

J B Kwok, S Raskin, G Morgan, S A Antoniuk, I Bruk, P R Schofield.   

Abstract

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Year:  2001        PMID： 11389164      PMCID： PMC1734885          DOI： 10.1136/jmg.38.6.e17

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families.

Authors:  Sandra L Gilbert; Fatih Ozdag; Umit H Ulas; William B Dobyns; Bruce T Lahn
Journal:  Mol Diagn       Date:  2004

Review 2.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

3.  Hyperekplexia (startle disease): a novel mutation (S270T) in the M2 domain of the GLRA1 gene and a molecular review of the disorder.

Authors:  Pablo Lapunzina; Juan M Sánchez; Marta Cabrera; Ana Moreno; Alicia Delicado; Maria L de Torres; Angeles M Mori; José Quero; Isidora Lopez Pajares
Journal:  Mol Diagn       Date:  2003

Review 4.  Glycine receptor mouse mutants: model systems for human hyperekplexia.

Authors:  Natascha Schaefer; Georg Langlhofer; Christoph J Kluck; Carmen Villmann
Journal:  Br J Pharmacol       Date:  2013-11       Impact factor: 8.739

5.  Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.

Authors:  Teresa Sprovieri; Carmine Ungaro; Serena Sivo; Michela Quintiliani; Ilaria Contaldo; Chiara Veredice; Luigi Citrigno; Maria Muglia; Francesca Cavalcanti; Sebastiano Cavallaro; Eugenio Mercuri; Domenica Battaglia
Journal:  BMC Med Genet       Date:  2019-03-12       Impact factor: 2.103
  5 in total

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