α-Mannosidosis: Functional cloning of the lysosomal α-mannosidase cDNA and identification of a mutation in two affected siblings

Human Molecular Genetics

Volumn 6, Issue 5, 1997, Pages 717-726

  Nilssen, Øivind ^a   Berg, Thomas ^a   Riise, Hilde M F ^a   Ramachandran, Umayal ^a   Evjen, Gry ^a   Hansen, Gaute M ^a   Malm, Dag ^a   Tranebjærg, Lisbeth ^a   Tollersrud, Ole K ^a  

^a UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA MANNOSIDASE; COMPLEMENTARY DNA; ENZYME PRECURSOR; LYSOSOME ENZYME; MESSENGER RNA; MUTANT PROTEIN; SIGNAL PEPTIDE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; DISULFIDE BOND; ENZYME PURIFICATION; ENZYME STRUCTURE; ENZYME SYNTHESIS; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LUNG; MALE; MANNOSIDOSIS; MOLECULAR CLONING; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN PROCESSING;

EID: 0030940335     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.5.717     Document Type: Article

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