Six Children with Pyruvate Kinase Deficiency from One Small Town: Molecular Characterization of the PK-LR Gene - 14/09/11
Doi : 10.1016/j.jpeds.2011.05.043
Robert D. Christensen, MD a, b, ⁎ 
, Hassan M. Yaish, MD c, Charlotte B. Johnson, MS, PNP-C d, Paola Bianchi, PhD e, Alberto Zanella, MD e
, Hassan M. Yaish, MD c, Charlotte B. Johnson, MS, PNP-C d, Paola Bianchi, PhD e, Alberto Zanella, MD e a Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, UT
b Division of Neonatology, McKay-Dee Hospital Center, Ogden, UT
c Primary Children’s Medical Center and the Department of Pediatrics, Division of Hematology/Oncology, University of Utah School of Medicine, Salt Lake City, UT
d Pediatric Clinic, Hildale, UT
e U.O. Hematology 2, Foundation IRCC Ca’ Grada Ospedale Maggiore Policlinico, Milan, Italy
Reprint requests: Robert D. Christensen, MD, Intermountain Healthcare, 4401 Harrison Blvd, Ogden, UT 84403.Abstract |
We identified the pyruvate kinase liver/red cell enzyme gene mutation of 8 children previously diagnosed with pyruvate kinase deficiency who were living in a remote town in the western United States. Six were found to be homozygous for the mutation 1529G-A (510 Arg-Gln). Two previously thought to have pyruvate kinase deficiency did not, because they were heterozygous.
Le texte complet de cet article est disponible en PDF.Mots-clés : PK, PK-LR
Plan
| Supported in part by the Foundation IRCCS Ca’ Granda Ospedale Maggiore of Milan, Italy (grant RC 160/01, 2009) and the Department of Research of Intermountain Healthcare, Salt Lake City, Utah. |
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| The authors have no conflict of interest to disclose relative to this article. |
© 2011
Mosby, Inc. Tous droits réservés.
Vol 159 - N° 4
P. 695-697 - octobre 2011 Retour au numéro
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