Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event

Molecular Genetics and Metabolism

Volumn 102, Issue 2, 2011, Pages 226-228

  Cozar, Monica ^a   Bembi, Bruno ^b   Dominissini, Silvia ^b   Zampieri, Stefania ^b   Vilageliu, Lluisa ^a   Grinberg, Daniel ^a   Dardis, Andrea ^b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

Author keywords

Alu recombination; Gaucher disease; GBA1 gene; Mutations

Indexed keywords

IMIGLUCERASE;

ADULT; ALU SEQUENCE; ANEMIA; ARTICLE; BONE PAIN; CASE REPORT; ENZYME REPLACEMENT; FEVER; GAUCHER DISEASE; GBA1 GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENOTYPE; HEPATOSPLENOMEGALY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING;

EID: 78651453514     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.10.004     Document Type: Article

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