Molecular analysis in two β-mannosidosis patients: Description of a new adult case

Molecular Genetics and Metabolism

Volumn 89, Issue 4, 2006, Pages 398-400

  Gort, Laura ^a   Duque, Joana ^a   Fabeiro, José M ^b   Zulaica, Ander ^b   Coll, Maria Josep ^a   Chabás, Amparo ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL XERAL CÍES   (Spain)

Author keywords

Mannosidase; Mannosidosis; Lysosomal storage disease; MANBA gene; NMD; Nonsense mediated mRNA decay

Indexed keywords

BETA MANNOSIDASE; COMPLEMENTARY DNA; GENOMIC DNA;

ADULT; ARTICLE; BETA MANNOSIDOSIS; CASE REPORT; CHEMICAL ANALYSIS; FEMALE; FIBROBLAST; GENE DELETION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADULT; AMINO ACID SUBSTITUTION; BETA-MANNOSIDASE; BETA-MANNOSIDOSIS; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; FEMALE; HUMANS; MUTATION; RNA STABILITY;

EID: 33750727424     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.07.001     Document Type: Article

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