Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId-Reference-Cited by-同舟云学术

Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId

Published:2009-01-01 Issue:10 Volume:47 Page:
ISSN:1437-4331
Container-title:Clinical Chemistry and Laboratory Medicine
language:
Short-container-title:

Author:

Endo Yoriko,Fateen Ekram,El Shabrawy Mortada,Aoyama Yoshiko,Ebara Tetsu,Murase Toshio,Podskarbi Teodor,Shin Yoon S.,Okubo Minoru

Publisher

Walter de Gruyter GmbH

Subject

Biochemistry (medical),Clinical Biochemistry,General Medicine

Link

https://www.degruyter.com/document/doi/10.1515/CCLM.2009.281/pdf

Reference28 articles.

1. Glycogen Storage Disease: Clinical, Biochemical, and Molecular Heterogeneity

2. The Subgroups of Type III Glycogenosis

3. Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III

4. Human Glycogen Debranching Enzyme Gene (AGL): Complete Structural Organization and Characterization of the 5′ Flanking Region

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