Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
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The clinical management of Type 2 Gaucher diseaseType 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).Transcriptomic Profiling of Egg Quality in Sea Bass (Dicentrarchus labrax) Sheds Light on Genes Involved in Ubiquitination and Translation.
P2860
Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype.
description
2004 nî lūn-bûn
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name
Homozygous loss of a cysteine ...... ase with a hydropic phenotype.
@en
Homozygous loss of a cysteine ...... ase with a hydropic phenotype.
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type
label
Homozygous loss of a cysteine ...... ase with a hydropic phenotype.
@en
Homozygous loss of a cysteine ...... ase with a hydropic phenotype.
@nl
prefLabel
Homozygous loss of a cysteine ...... ase with a hydropic phenotype.
@en
Homozygous loss of a cysteine ...... ase with a hydropic phenotype.
@nl
P2093
P2860
P356
P1476
Homozygous loss of a cysteine ...... ase with a hydropic phenotype.
@en
P2093
Alan Cooper
Claire M Thornton
Fiona Stewart
Heather J Church
J Edmund Wraith
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201251
P577
2004-11-01T00:00:00Z
P5875
P6179
1009352721