Fabry Disease: Characterization of α-Galactoslidase A Double Mutations and the D313Y Plasma Enzyme Pseudodeficiency Allele

Human Mutation

Volumn 22, Issue 6, 2003, Pages 486-492

  Yasuda, Makiko ^a,b   Shabbeer, Junaid ^a   Benson, Stacy D ^c   Maire, Irene ^d   Burnett, Roger M ^c   Desnick, Robert J ^a,e  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^c WISTAR INSTITUTE   (United States)

^d HÔPITAL DEBROUSSE   (France)

^e Department of Human Genetics ^*  (United States)

Author keywords

Fabry disease; GLA; Lysosomal storage disease; Mutation analysis; Pseudodeficiency; Structural homology model

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA N ACETYLGALACTOSAMINIDASE; GLYCOSIDASE; GLYCOSPHINGOLIPID; LYSOSOMAL EXOGLYCOHYDROLASE; UNCLASSIFIED DRUG;

ADULT; ALLELISM; ANIMAL CELL; ARTICLE; CASE REPORT; CELLULAR DISTRIBUTION; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; CRYSTAL STRUCTURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STRUCTURE; FABRY DISEASE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; HUMAN; LIPOLYSIS; LYSOSOME STORAGE DISEASE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PH MEASUREMENT; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKED DISORDER; X RAY CRYSTALLOGRAPHY;

ALLELES; ALPHA-GALACTOSIDASE; AMINO ACID SUBSTITUTION; ANIMALS; CATALYTIC DOMAIN; CERCOPITHECUS AETHIOPS; CHICKENS; COS CELLS; DNA; DNA MUTATIONAL ANALYSIS; ENDOPLASMIC RETICULUM; ENZYME STABILITY; FABRY DISEASE; HUMANS; HYDROGEN-ION CONCENTRATION; LYSOSOMES; MALE; MODELS, MOLECULAR; MUTATION; PLASMIDS; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; TRANSFECTION;

GALLUS GALLUS;

EID: 0345732648     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10275     Document Type: Article

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