Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.
about
Human lysosomal acid phosphatase: cloning, expression and chromosomal assignmentComputer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type IIIdentification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiencyIdentification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cellsIdentification 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 alleleTargeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type IIPrimary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complexHot spot mutations in adenosine deaminase deficiency.Extensive genetic heterogeneity in patients with acid alpha glucosidase deficiency as detected by abnormalities of DNA and mRNAGlycogenosis type II: protein and DNA analysis in five South African families from various ethnic originsMurine acid alpha-glucosidase: cell-specific mRNA differential expression during development and maturationDiagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert groupEnzymatic and molecular strategies to diagnose Pompe disease.Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy.Identification of an RsaI RFLP at the acid alpha glucosidase (GAA) locus.Further characterization of SacI RFLPs at the acid alpha glucosidase (GAA) locus.Identification of a HindIII and a TaqI RFLP at the acid alpha glucosidase (GAA) locusFurther characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus.The 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.Clinical Analysis of Algerian Patients with Pompe Disease.Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
P2860
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P2860
Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.
description
1986 nî lūn-bûn
@nan
1986年の論文
@ja
1986年学术文章
@wuu
1986年学术文章
@zh-cn
1986年学术文章
@zh-hans
1986年学术文章
@zh-my
1986年学术文章
@zh-sg
1986年學術文章
@yue
1986年學術文章
@zh
1986年學術文章
@zh-hant
name
Isolation of a cDNA for human ...... lucosidase-deficient patients.
@ast
Isolation of a cDNA for human ...... lucosidase-deficient patients.
@en
type
label
Isolation of a cDNA for human ...... lucosidase-deficient patients.
@ast
Isolation of a cDNA for human ...... lucosidase-deficient patients.
@en
prefLabel
Isolation of a cDNA for human ...... lucosidase-deficient patients.
@ast
Isolation of a cDNA for human ...... lucosidase-deficient patients.
@en
P2093
P2860
P356
P1476
Isolation of a cDNA for human ...... lucosidase-deficient patients.
@en
P2093
A Ellenbogen
A Pellicer
F Martiniuk
G La Badie
R Hirschhorn
P2860
P304
P356
10.1073/PNAS.83.24.9641
P407
P577
1986-12-01T00:00:00Z