A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
Publication
, Journal Article
Chen, YT
Published in: Hum Genet
January 1999
Duke Scholars
Published In
Hum Genet
DOI
ISSN
0340-6717
Publication Date
January 1999
Volume
104
Issue
1
Start / End Page
111 / 112
Location
Germany
Related Subject Headings
- RNA Splicing
- Point Mutation
- Introns
- Humans
- Homozygote
- Glycogen Storage Disease Type III
- Glycogen Debranching Enzyme System
- Genetics & Heredity
- Exons
- Adult
Citation
APA
Chicago
ICMJE
MLA
NLM
Chen, Y. T. (1999). A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. Hum Genet, 104(1), 111–112. https://doi.org/10.1007/s004390050920
Chen, Y. T. “A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.” Hum Genet 104, no. 1 (January 1999): 111–12. https://doi.org/10.1007/s004390050920.
Chen, Y. T. “A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.” Hum Genet, vol. 104, no. 1, Jan. 1999, pp. 111–12. Pubmed, doi:10.1007/s004390050920.
Published In
Hum Genet
DOI
ISSN
0340-6717
Publication Date
January 1999
Volume
104
Issue
1
Start / End Page
111 / 112
Location
Germany
Related Subject Headings
- RNA Splicing
- Point Mutation
- Introns
- Humans
- Homozygote
- Glycogen Storage Disease Type III
- Glycogen Debranching Enzyme System
- Genetics & Heredity
- Exons
- Adult