Possible interference between tissue-non-specific alkaline phosphatase with an Arg54→Cys substitution and a counterpart with an Asp277→Ala substitution found in a compound heterozygote associated with severe hypophosphatasia

Biochemical Journal

Volumn 348, Issue 3, 2000, Pages 633-642

  Fukushi Irie M ^a   Ito, M ^a   Amaya, Y ^a   Amizuka, N ^a   Ozawa, H ^a   Omura, S ^b   Ikehara, Y ^c   Oda, K ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b KITASATO INSTITUTE   (Japan)

^c FUKUOKA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autosomal recessive; Degradation; Glycosylphosphatidylinositol; Missense mutation

Indexed keywords

ALANINE; ALKALINE PHOSPHATASE; ARGININE; ASPARTIC ACID; CYSTEINE; GLYCOSYLPHOSPHATIDYLINOSITOL; MUTANT PROTEIN; PHOSPHOLIPASE C;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; BIOTINYLATION; CELL STRAIN COS1; ENZYME ACTIVITY; HETEROZYGOTE; HYPOPHOSPHATASIA; IMMUNOFLUORESCENCE; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN FOLDING; SUCROSE GRADIENT;

ALANINE; ALKALINE PHOSPHATASE; AMINO ACID SUBSTITUTION; ANIMALS; ARGININE; ASPARTIC ACID; COS CELLS; CYSTEINE; DNA, COMPLEMENTARY; HETEROZYGOTE; HYPOPHOSPHATASIA; MUTATION, MISSENSE; TRANSFECTION;

ANIMALIA;

EID: 0034660661     PISSN: 02646021     EISSN: None     Source Type: Journal    
DOI: 10.1042/0264-6021:3480633     Document Type: Article

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