Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation-Reference-Cited by-同舟云学术

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

Published:2005-02-14 Issue:1 Volume:134A Page:84-87
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Dobrovolný Robert,Dvořáková Lenka,Ledvinová Jana,Magage Sudheera,Bultas Jan,Lubanda Jean C.,Poupětová Helena,Elleder Milan,Karetová Debora,Hřebíček Martin

Funder

IGA MZ čR

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.30533/fullpdf

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3. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction;Chomczynski;Anal Biochem,1987

4. Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1);Cohn;Am J Hum Genet,1990

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