A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
about
Molecular defect of tissue-nonspecific alkaline phosphatase bearing a substitution at position 426 associated with hypophosphatasia.Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.Genetic analysis of adults heterozygous for ALPL mutations.
P2860
A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
description
2012 nî lūn-bûn
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name
A dimerization defect caused b ...... th perinatal hypophosphatasia.
@en
A dimerization defect caused b ...... th perinatal hypophosphatasia.
@nl
type
label
A dimerization defect caused b ...... th perinatal hypophosphatasia.
@en
A dimerization defect caused b ...... th perinatal hypophosphatasia.
@nl
prefLabel
A dimerization defect caused b ...... th perinatal hypophosphatasia.
@en
A dimerization defect caused b ...... th perinatal hypophosphatasia.
@nl
P2093
P2860
P356
P1433
P1476
A dimerization defect caused b ...... th perinatal hypophosphatasia.
@en
P2093
Hiba A Al-Shawafi
Kimimitsu Oda
Miwa Sohda
Saori Makita
Sara Sultana
Shuichi Nomura
P2860
P304
P356
10.1111/FEBS.12022
P407
P577
2012-10-30T00:00:00Z