Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III

Journal of Human Genetics

Volumn 47, Issue 2, 2002, Pages 55-59

  Horinishi, A ^a   Okubo, M ^a   Tang, N L S ^b   Hui, J ^b   To, K F ^b   Mabuchi, T ^c   Okada, T ^c   Mabuchi, H ^c   Murase, T ^a  

^a TORANOMON HOSPITAL   (Japan)

^b and Hong Kong Branch of CAS Center for Excellence in Animal Evolution and Genetics   (Hong Kong)

^c KANAZAWA UNIVERSITY   (Japan)

Author keywords

AGL; Glycogen storage disease type III; Glycogen debranching enzyme; Haplotype; Nonsense mutation; Recurrent mutation; Splicing

Indexed keywords

ADENINE; GLYCOGEN DEBRANCHING ENZYME; GUANINE; THYMINE;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHINESE; DNA POLYMORPHISM; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; GLYCOGEN STORAGE DISEASE; HAPLOTYPE; HUMAN; JAPAN; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; SCHOOL CHILD;

EID: 0036221990     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200000     Document Type: Article

References (19)

1. Human glycogen debranching enzyme gene (AGL): Complete structural organization and characterization of the 5′-flanking region
2. Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: Identification of multiple tissue-specific isoforms
3. Glycogen storage diseases
4. Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III
5. Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa
6. Novel intronic polymorphisms (IVS6-73 A/G and IVS21+124 A/G) in the glycogen-debranching enzyme (AGL) gene
7. Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease
8. A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III
9. -12 → G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb
10. Glycogen storage disease type IIIa: First report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient
11. Compound heterozygous patient with glycogen storage disease type III: Identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin
12. Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan
13. A single-base deletion in the 3′-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients
14. Two new mutations in the 3′ coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient
15. Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease
16. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle
17. 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
18. Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III
19. Identification of a 5′ splice junction mutation in the debranching enzyme gene in a Japanese patient with glycogen storage disease type IIIa