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
about
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
Q54836112-84B1C020-6994-45CA-87AC-789BFFA1C6BDQ54836114-5F6A4A5D-8192-4EF6-AD05-BA95FF08D415Q54836172-9D727551-6B6C-4613-AA41-3314E857D487Q54836229-817F0F07-B119-4F41-9076-85ECBA1BB35BQ54836849-C9F5711F-A13B-401F-A1EC-A8C75CEC10E2Q54837194-5C44524E-D4A5-4527-A9F9-E097B7B8CD0AQ54838008-CB9C8FF5-9B57-437D-8786-3FB0A8DBA5F8Q54838757-F4D4E591-544E-47E5-91D8-8B24D9884020Q54841910-A3B69834-2A81-4240-8D7D-8DFDB2ECF25FQ54842246-0AB44602-6E4C-4D4C-97A6-A12BB076FA7EQ54843642-D6F6E4F9-0A3A-4AEE-8679-92E2A59E1BDF
P1343
Q24314311-D9D243A4-CF61-4A1F-8FA7-62B3D215708FQ24564762-C4C20253-8FCF-4FC2-9B20-B491CBA7B048Q35786827-43D33F53-BE38-465F-90DC-48F2AAC00600Q37086582-CA4D544E-281E-4348-A88A-4C970B68FD11Q41870316-F2E8E40B-A394-4E7B-A9C8-05FA338AED47Q41948069-0A81148D-96FB-4DAE-A9DA-145913203822Q45316420-D8B1C6BE-1F0F-4F75-B352-68D5F29F9ADAQ50289086-AE9AF50C-3682-457C-8120-93F8301F294DQ50289087-097D6050-D107-46A6-94FA-A519B7E3B1E2Q57455599-FCBD736E-57FD-4734-8956-70D454BFB068
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
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
P2093
P2860
P1476
Identification of a missense m ...... ression from the second allele
@en
P2093
P2860
P304
P407
P577
1991-09-01T00:00:00Z