Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele

Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele

Item
http://www.wikidata.org/entity/Q24678812
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type IIType 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patientMurine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturationCarrier testing for severe childhood recessive diseases by next-generation sequencingThe conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.Glycogen storage disease type II (GAA)Defective GAA does not hydrolyze alpha(1;4) linkages in lysosomal glycogenDefective GAA does not hydrolyze alpha(1;6) linkages in lysosomal glycogenThe progression of the ClinGen gene clinical validity classification over time
P2860

Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele

Item
http://www.wikidata.org/entity/Q24678812
description
1991 nî lūn-bûn
@nan
1991 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Identification of a missense m ...... ression from the second allele
@ast
Identification of a missense m ...... ression from the second allele
@en
Identification of a missense m ...... ression from the second allele
@nl
type
label
Identification of a missense m ...... ression from the second allele
@ast
Identification of a missense m ...... ression from the second allele
@en
Identification of a missense m ...... ression from the second allele
@nl
prefLabel
Identification of a missense m ...... ression from the second allele
@ast
Identification of a missense m ...... ression from the second allele
@en
Identification of a missense m ...... ression from the second allele
@nl
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Identification of a missense m ...... ression from the second allele
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932