Glucocerebrosidase (Gaucher disease)

Human Mutation

Volumn 8, Issue 3, 1996, Pages 207-213

  Beutler, Ernest ^a   Gelbart, Terri ^a  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

Chromosome 1; Polymorphism; Pseudogene; Pyruvate kinase

Indexed keywords

GLUCOSYLCERAMIDASE; GLYCOLIPID;

ARTICLE; GAUCHER DISEASE; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; HEPATOMEGALY; HUMAN; HUMAN CELL; LIPID STORAGE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SYMPTOMATOLOGY; TISSUE DISTRIBUTION;

ALTERNATIVE SPLICING; BONE AND BONES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FRAMESHIFT MUTATION; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HAPLOTYPES; HEPATOMEGALY; HUMANS; JEWS; LUNG DISEASES; MUTATION; POINT MUTATION; SEQUENCE DELETION; SPLENOMEGALY;

EID: 0029848854     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:3<207::AID-HUMU2>3.0.CO;2-6     Document Type: Article

References (5)

1. Aran JM, Gottesman MM, Pastan I (1994) Drug-selected coexpression of human glucocerebrosidase and P-glycoprotein using a bicistronic vector. Proc Natl Acad Sci USA 91:3176-3180.
2. Barneveld RA, Keijzer W, Tegelaers FPW, et al (1983) Assignment of the gene coding for human beta-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies. Hum Genet 64:227-231.
3. Beutler E, Gelbart T, Balicki D (1996) Gaucher disease: four families with previously underscribed mutations. Proc Assn Amer Phys 108:179-184.
4. Beutler E, Gelbart T (1990) Gaucher disease associated with a unique KpnI restriction site: Identification of the amino acid substitution. Ann Hum Genet 54: 149-153.
5. Beutler E, Gelbart T, Kuhl W, Sorge J, West C (1991) Identification of the second common Jewish Gaucher disease mutation makes possible population based screening for the heterozygous state. Proc Natl Acad Sci USA 88: 10544-10547.