Molecular description of three macro-deletions and an Alu–Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease

This publication has 18 references indexed in Scilit:

• Identificación de una nueva mutación como causa del síndrome de Lesch-Nyhan en una familia peruana: utilidad del examen molecular para el consejo genético
  Revista de Neuro-Psiquiatría, 2013
• The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
  Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2000
• Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females
  Arquivos de Neuro-Psiquiatria, 1999
• Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome
  Human Genetics, 1998
• Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch--Nyhan syndrome
  Human Molecular Genetics, 1994
• Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome
  Human Genetics, 1993
• Molecular structure and genetic stability of human hypoxanthine phosphoribosyltransferase (HPRT) gene duplications
  Genomics, 1992
• Molecular analyses of a Lesch-Nyhan syndrome mutation (hprt Montreal) by use of T-lymphocyte cultures
  Human Genetics, 1990
• Automated DNA sequencing of the human HPRT locus
  Genomics, 1990
• Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.
  Proceedings of the National Academy of Sciences, 1989