Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
about
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognitionMucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)
P2860
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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name
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
@en
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
@nl
type
label
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
@en
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
@nl
prefLabel
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
@en
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene.
@nl
P2860
P50
P356
P1476
Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene
@en
P2093
Kapaettu Satyamoorthy
P2860
P304
P356
10.1002/AJMG.A.35295
P407
P50
P577
2012-04-11T00:00:00Z