Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1

Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1

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Bibliographic Details
Published in:American Journal of Medical Genetics Part A Vol. 132A; no. 1; pp. 80 - 83
Main Authors: Chevalier-Porst, Françoise, Rolland, Marie-Odile, Cochat, Pierre, Bozon, Dominique
Format: Report
Language:English
Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-01-2005
Subjects:
AGXT
hyperoxaluria type 1
maternal isodisomy
quantitative PCR
UPD2
Online Access:Get full text
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Description
Bibliography:ark:/67375/WNG-JJ66PB8F-Z
istex:2B1EE556EA37506BA99D3FA053FA518BCB4D0B5A
ArticleID:AJMG30375
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30375