Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Human mutation

Volumn 25, Issue 1, 2005, Pages 100-

  Miocić, Snjezana ^a   Filocamo, Mirella ^a   Dominissini, Silvia ^a   Montalvo, Anna Lisa E ^a   Vlahovicek, Kristian ^a   Deganuto, Marta ^a   Mazzotti, Raffaella ^a   Cariati, Roberta ^a   Bembi, Bruno ^a   Pittis, Maria Gabriela ^a  

^a INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ANIMAL; ARTICLE; CELL STRAIN COS1; CERCOPITHECUS; FEMALE; GAUCHER DISEASE; GENETIC RECOMBINATION; GENETICS; HUMAN; IN VITRO STUDY; MALE; MISSENSE MUTATION; MUTATION; NUCLEOTIDE SEQUENCE; PSEUDOGENE;

ADULT; ALLELES; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; DNA MUTATIONAL ANALYSIS; FEMALE; GAUCHER DISEASE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PSEUDOGENES; RECOMBINATION, GENETIC;

MLCS; MLOWN;

EID: 24644465307     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9301     Document Type: Article

References (0)