Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis

Clinica Chimica Acta

Volumn 375, Issue 1-2, 2007, Pages 136-139

  Pittis, M G ^b   Montalvo, A L E ^b   Heikinheimo, P ^c   Sbaragli, M ^a   Balducci, C ^a   Persichetti, E ^a   Van Maldergem, L ^d   Filocamo, M ^e   Bembi, B ^b   Beccari, T ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

^b INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^c UNIVERSITY OF HELSINKI   (Finland)

^d INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^e G GASLINI INSTITUTE   (Italy)

Author keywords

3D structural analysis; Alpha d mannosidase; Alpha mannosidosis; MAN2B1

Indexed keywords

ALPHA MANNOSIDASE; NUCLEOTIDE; PROTEIN;

ADULT; ALLELE; ANIMAL CELL; ARTICLE; CASE REPORT; CELL STRAIN COS1; ENZYME ACTIVE SITE; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HUMAN; IN VITRO STUDY; MALE; MANNOSIDOSIS; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN INTERACTION; SCHOOL CHILD; STOP CODON; STRUCTURE ANALYSIS;

ADULT; ALPHA-MANNOSIDASE; ALPHA-MANNOSIDOSIS; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; COS CELLS; FEMALE; GENOTYPE; HUMANS; MALE; MUTAGENESIS, SITE-DIRECTED; MUTATION; PROTEIN CONFORMATION;

EID: 33751017084     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2006.06.034     Document Type: Article

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