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.
about
Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kgMutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRMThe pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.Different renal phenotypes in related adult males with Fabry disease with the same classic genotype.Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders.Agalsidase alfa--a preparation for enzyme replacement therapy in Anderson-Fabry disease.Structure-function relationships in alpha-galactosidase A.Epigenetic contributors to the discordance of monozygotic twins.Copy number changes on the X chromosome in women with and without highly skewed X-chromosome inactivation.Three new loci for determining x chromosome inactivation patterns.Natural gene therapy in monozygotic twins with Fanconi anemiaNovel GLA Deletion in a Cypriot Female Presenting with Cornea VerticillataSkewed X chromosome inactivation and trisomic spontaneous abortion: no associationFabry's disease: an example of cardiorenal syndrome type 5.Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.Fabry disease
P2860
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P2860
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.
description
1996 nî lūn-bûn
@nan
1996 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Uneven X inactivation in a fem ...... he alpha-galactosidase A gene.
@ast
Uneven X inactivation in a fem ...... he alpha-galactosidase A gene.
@en
type
label
Uneven X inactivation in a fem ...... he alpha-galactosidase A gene.
@ast
Uneven X inactivation in a fem ...... he alpha-galactosidase A gene.
@en
prefLabel
Uneven X inactivation in a fem ...... he alpha-galactosidase A gene.
@ast
Uneven X inactivation in a fem ...... he alpha-galactosidase A gene.
@en
P2093
P2860
P356
P1476
Uneven X inactivation in a fem ...... he alpha-galactosidase A gene.
@en
P2093
Ploos van Amstel JK
Redonnet-Vernhet I
Salvayre R
P2860
P304
P356
10.1136/JMG.33.8.682
P407
P577
1996-08-01T00:00:00Z