Wide allelic heterogeneity with predominance of largeIDSgene complex rearrangements in a sample of Mexican patients with Hunter syndrome-Reference-Cited by-同舟云学术

Wide allelic heterogeneity with predominance of largeIDSgene complex rearrangements in a sample of Mexican patients with Hunter syndrome

Published:2016-02-09 Issue:5 Volume:89 Page:574-583
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Alcántara-Ortigoza M.A.¹,García-de Teresa B.¹,González-del Angel A.¹,Berumen J.²³,Guardado-Estrada M.³,Fernández-Hernández L.¹,Navarrete-Martínez J.I.⁴,Maza-Morales M.⁵,Rius-Domínguez R.⁶

Affiliation:

1. Laboratorio de Biología Molecular, Departamento de Genética Humana; Instituto Nacional de Pediatría; Distrito Federal México

2. Departamento de Medicina Experimental, Facultad de Medicina; Universidad Nacional Autónoma de México; Distrito Federal México

3. Unidad de Medicina Genómica; Hospital General de México; Distrito Federal México

4. Servicio de Genética. Hospital de Alta Especialidad PEMEX Picacho Sur; Distrito Federal México

5. Médico Residente de Pediatría, Instituto Nacional de Pediatría; Distrito Federal México

6. Médico Residente de Genética Médica, Departamento de Genética Humana; Instituto Nacional de Pediatría; Distrito Federal México

Funder

National Institute of Pediatrics

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome;Bondeson;Hum Mol Genet,1995

2. IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient;Birot;Hum Mutat,1996

3. Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II;Bunge;Eur J Hum Genet,1998

4. Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with mucopolysaccharidosis type II revealed by a rapid PCR-based method;Lualdi;Hum Mutat,2005

5. Mucopolysaccharidosis type II: an update on mutation spectrum;Froissart;Acta Paediatr Suppl,2007

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