Sequence of two alleles responsible for Gaucher disease.
about
Sequence variability of a human pseudogeneDevelopment of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi jewish descentGene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.Molecular characterisation of type 1 Gaucher disease families and patients: intrafamilial heterogeneity at the clinical level.Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patientsGaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.Gaucher disease: heterologous expression of two alleles associated with neuronopathic phenotypes.A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients.Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology.Gaucher disease as a paradigm of current issues regarding single gene mutations of humansGlucocerebrosidase mutations in Gaucher disease.Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous stateParkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
P2860
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P2860
Sequence of two alleles responsible for Gaucher disease.
description
1990 nî lūn-bûn
@nan
1990 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Sequence of two alleles responsible for Gaucher disease.
@ast
Sequence of two alleles responsible for Gaucher disease.
@en
type
label
Sequence of two alleles responsible for Gaucher disease.
@ast
Sequence of two alleles responsible for Gaucher disease.
@en
prefLabel
Sequence of two alleles responsible for Gaucher disease.
@ast
Sequence of two alleles responsible for Gaucher disease.
@en
P2093
P356
P1433
P1476
Sequence of two alleles responsible for Gaucher disease.
@en
P2093
P304
P356
10.1089/DNA.1990.9.233
P577
1990-05-01T00:00:00Z