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Volumn 24, Issue 4, 2004, Pages 350-351
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A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.
a
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Author keywords
[No Author keywords available]
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Indexed keywords
HYBRID PROTEIN;
N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE;
SIGNAL PEPTIDE;
AMINO ACID SEQUENCE;
AMINO ACID SUBSTITUTION;
ANIMAL;
ARTICLE;
CELL LINE;
CELL STRAIN COS1;
CERCOPITHECUS;
ENDOPLASMIC RETICULUM;
ENZYMOLOGY;
FINLAND;
GENETIC TRANSFECTION;
GENETICS;
HAMSTER;
HETEROZYGOTE;
HUMAN;
HYDROPHOBICITY;
LYSOSOME;
LYSOSOME STORAGE DISEASE;
MALE;
METABOLISM;
MISSENSE MUTATION;
MOLECULAR GENETICS;
NUCLEOTIDE SEQUENCE;
PHYSIOLOGY;
POINT MUTATION;
PROTEIN TRANSPORT;
STRUCTURE ACTIVITY RELATION;
SYRIAN HAMSTER;
AMINO ACID SEQUENCE;
AMINO ACID SUBSTITUTION;
ANIMALS;
ASPARTYLGLUCOSYLAMINASE;
CELL LINE;
CERCOPITHECUS AETHIOPS;
COS CELLS;
CRICETINAE;
DNA MUTATIONAL ANALYSIS;
ENDOPLASMIC RETICULUM;
FINLAND;
HETEROZYGOTE;
HUMANS;
HYDROPHOBICITY;
LYSOSOMAL STORAGE DISEASES;
LYSOSOMES;
MALE;
MESOCRICETUS;
MOLECULAR SEQUENCE DATA;
MUTATION, MISSENSE;
POINT MUTATION;
PROTEIN SORTING SIGNALS;
PROTEIN TRANSPORT;
RECOMBINANT FUSION PROTEINS;
STRUCTURE-ACTIVITY RELATIONSHIP;
TRANSFECTION;
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EID: 16644382068
PISSN: None
EISSN: 10981004
Source Type: Journal
DOI: 10.1002/humu.9276 Document Type: Article |
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Times cited : (19)
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References (0)
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