- Title
- A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa
- Creators
- Jianjun Shen - Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710; Fax: 919-684-8944Yong Bao - Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710; Fax: 919-684-8944Yuan-Tsong Chen - Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710; Fax: 919-684-8944
- Publication Details
- Human mutation, Vol.9(1), pp.37-40
- Publisher
- Wiley Subscription Services, Inc., A Wiley Company
- Number of pages
- 4
- Academic Unit
- Miller School of Medicine; UMMG Department of Pediatrics; UMMG Dept of Pediatrics - Endocrinology
- Language
- English
- Resource Type
- Journal article
- PMID
- 8990006
- Record Identifier
- 991031614060602976
Journal article
A nonsense mutation due to a single base insertion in the 3′-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa
Human mutation, Vol.9(1), pp.37-40
1997
PMID: 8990006
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- Citation topics
- 1 Clinical & Life Sciences
- 1.271 Lysosomal Storage Disorders
- 1.271.2265 Lafora Disease
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics
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Source: InCites