Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase A gene mutation

American Journal of Medical Genetics

Volumn 134 A, Issue 1, 2005, Pages 84-87

  Dobrovolńy, Robert ^a   Dvořǎková, Lenka ^a   Ledvinová, Jana ^a   Magage, Sudheera ^b   Bultas, Jan ^b   Lubanda, Jean C ^b   Poupětová, Helena ^a   Elleder, Milan ^a   Karetová, Debora ^b   Hřebíček, Martin ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

Fabry disease; Germline mosaicism; X inactivation

Indexed keywords

ALPHA GALACTOSIDASE; ANDROGEN RECEPTOR;

ADULT; ALLELE; ARTICLE; CASE REPORT; DISEASE SEVERITY; DNA ISOLATION; EMBRYO DEVELOPMENT; FABRY DISEASE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GERM LINE; HETEROZYGOTE; HUMAN; HUMARA GENE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; METHYLATION; MOSAICISM; PRIORITY JOURNAL; RECEPTOR GENE; WILD TYPE; X CHROMOSOME INACTIVATION;

ADULT; ALPHA-GALACTOSIDASE; DOSAGE COMPENSATION, GENETIC; FABRY DISEASE; FAMILY HEALTH; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MOSAICISM; PEDIGREE; RECEPTORS, ANDROGEN;

EID: 20144370430     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30533     Document Type: Article

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