DESCRIBE <http://purl.uniprot.org/citations/8863162>

Subject	Predicate	Object
http://purl.uniprot.org/citations/8863162	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/8863162	http://www.w3.org/1999/02/22-rdf-syntax-ns#type	http://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/8863162	http://www.w3.org/2000/01/rdf-schema#comment	"We describe two female monozygotic (MZ) twins heterozygous for Fabry disease, an X linked disorder resulting from the deficient activity of alpha-galactosidase A. While one of the twins was clinically affected, the other was asymptomatic. Enzymatic assay of alpha-galactosidase in blood leucocytes, skin fibroblasts, Epstein-Barr virus transformed lymphoid cell lines, and hair follicles of the twins and their parents confirmed the heterozygous status of the twins and indicated that Fabry disease had occurred as a result of a de novo mutation. The son of the unaffected twin sister was shown to be hemizygous. Molecular analysis of the alpha-galactosidase A gene permitted the identification of an as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231. Single strand conformation polymorphism (SSCP) analysis again showed the heterozygous status of the twins and a normal pattern in their parents. The basis for the discordant expression of this d novo mutation in the twins was investigated by studying their X inactivation status. Analysis of the inactive X specific methylation at the androgen receptor gene showed unbalanced inactivation in the twins' fibroblasts and in opposite directions. While the maternally derived X chromosome was preferentially active in the asymptomatic twin, the paternal X chromosome was active in the other, affected twin and was found in her hemizygotic nephew. These data suggest that the paternal X chromosome carries the de novo alpha-galactosidase A mutation and that uneven X inactivation is the underlying mechanism for disease expression in this novel female MZ twin pair. This is the first documented case of female twins discordant for Fabry disease."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.org/dc/terms/identifier	"doi:10.1136/jmg.33.8.682"xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.org/dc/terms/identifier	"doi:10.1136/jmg.33.8.682"xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Wevers R.A."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Wevers R.A."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Jansen R.P.M."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Jansen R.P.M."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Levade T."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Levade T."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Ploos van Amstel J.K."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Ploos van Amstel J.K."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Redonnet-Vernhet I."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Redonnet-Vernhet I."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Salvayre R."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/author	"Salvayre R."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/date	"1996"xsd:gYear
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/date	"1996"xsd:gYear
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/name	"J. Med. Genet."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/name	"J. Med. Genet."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/pages	"682-688"xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/pages	"682-688"xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/title	"Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene."xsd:string
http://purl.uniprot.org/citations/8863162	http://purl.uniprot.org/core/title	"Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene."xsd:string