Molecular and cellular characterization of novel a-mannosidosis mutations

Human Molecular Genetics

Volumn 20, Issue 13, 2011, Pages 2651-2661

  Kuokkanen, Elina ^a,b   Frostad Riise Stensland, Hilde Monica ^c   Smith, Wesley ^b   Buvang, Elisabeth Kjeldsen ^d   van Nguyen, Lam ^d   Nilssen, Øivind ^c,d   Heikinheimo, Pirkko ^a,b  

^a UNIVERSITY OF TURKU   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^d UNIVERSITY OF TROMSØ   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; CYSTEINE; GLYCINE; MAN2B1 PROTEIN; PROLINE; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CELL CULTURE; COW; FEMALE; GENETIC VARIABILITY; HELA CELL; HUMAN; HUMAN CELL; INTRACELLULAR SIGNALING; LYSOSOME; MANNOSIDOSIS; MISSENSE MUTATION; NONHUMAN; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN SECRETION; PROTEIN TRANSPORT;

ALPHA-MANNOSIDOSIS; AMINO ACID SUBSTITUTION; ANIMALS; CERCOPITHECUS AETHIOPS; CHO CELLS; COS CELLS; CRICETINAE; CRICETULUS; GENE EXPRESSION REGULATION; HELA CELLS; HUMANS; INTRACELLULAR SPACE; MANNOSIDASES; MODELS, MOLECULAR; MUTATION; PROTEIN CONFORMATION; PROTEIN TRANSPORT;

EID: 79958725036     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr167     Document Type: Article

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