A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

Human Genetics

Volumn 117, Issue 2-3, 2005, Pages 275-277

  Diaz Font, Anna ^a   Cormand, Bru ^a   Santamaria, Raül ^a   Vilageliu, Lluïsa ^a   Grinberg, Daniel ^a   Chabás, Amparo ^b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ESCIN; GLUCOSYLCERAMIDASE; MESSENGER RNA; SAPONIN D; SAPONIN DERIVATIVE; UNCLASSIFIED DRUG; PSAP PROTEIN, HUMAN; SPHINGOLIPID ACTIVATOR PROTEIN;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME ACTIVITY; GAUCHER DISEASE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HUMAN; MUTANT; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NORTHERN BLOTTING; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; NULL ALLELE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN DOMAIN; RESTRICTION MAPPING; SEQUENCE ANALYSIS; STOP CODON; BRAIN; BRAIN LEVEL; ENZYMOLOGY; EXON; GENETICS; METABOLISM; POINT MUTATION; RNA STABILITY;

BRAIN; BRAIN CHEMISTRY; EXONS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; POINT MUTATION; RNA STABILITY; SAPOSINS;

EID: 26944464611     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1288-x     Document Type: Article

References (7)

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