Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

Human Mutation

Volumn 8, Issue 3, 1996, Pages 280-281

  Amaral, Olga ^a   Pinto, Eugénia ^a   Fortuna, Margarida ^a   Lacerda, Lucia ^a   Miranda, M C S ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE;

ADULT; ALLELISM; ARTICLE; CASE REPORT; DNA DETERMINATION; ENZYME DEFICIENCY; FEMALE; GAUCHER DISEASE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; MALE; PORTUGAL; PREVALENCE; PRIORITY JOURNAL; RACE DIFFERENCE; SCHOOL CHILD;

ADENINE; CYTOSINE; EXONS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; POINT MUTATION; PORTUGAL; PREVALENCE;

EID: 0029818687     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z     Document Type: Article

References (5)

1. Amaral O, Fortuna AM, Lacerda L, Pinto R, Sa Miranda MC (1994) Molecular characterisation of type 1 Gaucher disease families and patients: Intrafamilial heterogeneity at the clinical level. J Med Genet 31:401-404.
2. Beutler E, Gelbart T, Kuhl W, Zimran A, West C (1992a) Mutations in Jewish patients with Gaucher disease. Blood 79:1662-1666.
3. Beutler E, West C, Gelbart T (1992b) Polymorphisms in the human glucocerebrosidase gene. Genomics 12:795-800.
4. Laubscher KH, Glew RH, Lee RE, Okinaka RT (1994) Use of denaturing gradient gel electrophoresis to identify mutant sequences in the β-glucocerebrosidase gene. Hum Mutat 3:411-415.
5. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) A rapid and sensitive detection of point mutations and genetic polymorphisms using polymerase chain reaction. Genomics 5:874-879.