1.
Nucleosides Nucleotides Nucleic Acids
; 36(7): 452-462, 2017 Jul 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28524722
RESUMO
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon 2 and exon 3 respectively, in the HGprt enzyme protein from different members of two Chiloé Island families. Molecular analysis has revealed the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
Assuntos
Hipoxantina Fosforribosiltransferase/genética , Ilhas , Síndrome de Lesch-Nyhan/enzimologia , Síndrome de Lesch-Nyhan/genética , Mutação , Linhagem , Adolescente , Adulto , Sequência de Bases , Chile , Éxons/genética , Feminino , Humanos , Masculino , Adulto Jovem
2.
N Engl J Med
; 295(26): 1481-2, Dec. 1976.
Artigo
em Inglês
| MedCarib
| ID: med-13177
3.
México; Editores asociados; c1976. 393 p.
Monografia
em Espanhol
| BVSNACUY
| ID: bnu-815