Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.
about
HypophosphatasiaNT5E mutations that cause human disease are associated with intracellular mistrafficking of NT5E proteinTissue nonspecific alkaline phosphatase is activated via a two-step mechanism by zinc transport complexes in the early secretory pathwayRetention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia.Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406. Structural importance of the crown domain.A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
P2860
Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.
description
2000 nî lūn-bûn
@nan
2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
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name
Possible interference between ...... with severe hypophosphatasia.
@en
type
label
Possible interference between ...... with severe hypophosphatasia.
@en
prefLabel
Possible interference between ...... with severe hypophosphatasia.
@en
P2093
P2860
P1433
P1476
Possible interference between ...... with severe hypophosphatasia.
@en
P2093
Fukushi-Irié M
P2860
P304
P356
10.1042/0264-6021:3480633
P407
P478
P577
2000-06-01T00:00:00Z