Identification of two novel β-mannosidosis-associated sequence variants: Biochemical analysis of β-mannosidase (MANBA) missense mutations

Molecular Genetics and Metabolism

Volumn 94, Issue 4, 2008, Pages 476-480

  Riise Stensland, Hilde Monica Frostad ^a   Persichetti, Emanuele ^b   Sorriso, Carmelita ^b   Hansen, Gaute Martin ^c   Bibi, Lucia ^b   Paciotti, Silvia ^b   Balducci, Chiara ^b   Beccari, Tommaso ^b  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^b UNIVERSITY OF PERUGIA   (Italy)

^c UNIVERSITY OF TROMSØ   (Norway)

Author keywords

Mannosidase (MANBA); Mannosidosis; Biochemical characterization; Mutation analysis; Site directed mutagenesis

Indexed keywords

BETA MANNOSIDASE;

ALTERNATIVE RNA SPLICING; ANIMAL CELL; ARTICLE; BETA MANNOSIDOSIS; CHEMICAL ANALYSIS; CONTROLLED STUDY; ENZYME ACTIVITY; GENE DELETION; GENE IDENTIFICATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SITE DIRECTED MUTAGENESIS;

ALTERNATIVE SPLICING; ANIMALS; BETA-MANNOSIDASE; BETA-MANNOSIDOSIS; CELLS, CULTURED; CERCOPITHECUS AETHIOPS; CODON, NONSENSE; COS CELLS; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE EXPRESSION; HUMANS; MUTATION, MISSENSE;

BOS; CAPRA HIRCUS;

EID: 46749086561     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.04.010     Document Type: Article

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