Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion-Reference-Cited by-同舟云学术

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Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion

Published:2018 Issue: Volume: Page:85-90
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Yokoi Katsuyuki,Nakajima Yoko,Ohye Tamae,Inagaki Hidehito,Wada Yoshinao,Fukuda Tokiko,Sugie Hideo,Yuasa Isao,Ito Tetsuya,Kurahashi Hiroki

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2018_108

Reference21 articles.

1. Beamer LJ (2015) Mutations in hereditary phosphoglucomutase 1 deficiency map to key regions of enzyme structure and function. J Inherit Metab Dis 38:243–256

2. Herbich J, Szilvassy J, Schnedl W (1985) Gene localisation of the PGM1 enzyme system and the Duffy blood groups on chromosome no. 1 by means of a new fragile site at 1p31. Hum Genet 70:178–180

3. Lakich D, Kazazian HH Jr, Antonarakis SE, Gitschier J (1993) Inversions disrupting the factor VII gene are a common cause of severe haemophilia A. Nat Genet 5:236–241

4. Lee Y, Stiers KM, Kain BN, Beamer LJ (2014) Compromised catalysis and potential folding defects in in vitro studies of missense mutants associated with hereditary phosphoglucomutase 1 deficiency. J Biol Chem 289:32010–32019

5. Liu Y, Ray W, Baranidharan S (1997) Structure of rabbit muscle phosphoglucomutase refined at 2.4A resolution. Acta Crystallogr D 53:392–405

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