|
|
Volumn 93, Issue 10, 2014, Pages 1787-1789
|
|
Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1
a
|
|
Author keywords
[No Author keywords available]
|
|
Indexed keywords
GLUCOSYLCERAMIDASE;
IMIGLUCERASE;
RECOMBINANT PROTEIN;
AMINO ACID SUBSTITUTION;
CASE REPORT;
COMPLICATION;
CONSANGUINITY;
ENZYME REPLACEMENT;
ETHNOLOGY;
FEMALE;
GAUCHER DISEASE;
GENETICS;
HEPATOMEGALY;
HETEROZYGOTE;
HISTIOCYTE;
HUMAN;
IRAN;
MALE;
MISSENSE MUTATION;
NUCLEOTIDE SEQUENCE;
PATHOLOGY;
PHENOTYPE;
POINT MUTATION;
PRESCHOOL CHILD;
SPLENECTOMY;
SPLENOMEGALY;
YOUNG ADULT;
AMINO ACID SUBSTITUTION;
CHILD, PRESCHOOL;
CONSANGUINITY;
CONSERVED SEQUENCE;
ENZYME REPLACEMENT THERAPY;
FEMALE;
GAUCHER DISEASE;
GLUCOSYLCERAMIDASE;
HEPATOMEGALY;
HETEROZYGOTE;
HISTIOCYTES;
HUMANS;
IRAN;
MALE;
MUTATION, MISSENSE;
PHENOTYPE;
POINT MUTATION;
RECOMBINANT PROTEINS;
SPLENECTOMY;
SPLENOMEGALY;
YOUNG ADULT;
|
|
EID: 85027929445
PISSN: None
EISSN: 14320584
Source Type: Journal
DOI: 10.1007/s00277-014-2036-x Document Type: Article |
|
Times cited : (9)
|
|
References (0)
|
