Five new Gaucher disease mutations

Blood Cells, Molecules, and Diseases

Volumn 21, Issue 1, 1995, Pages 20-24

  Beutler, Ernest ^a   Gelbart, Terri ^a   Demina, Anna ^a   Zimran, Ari ^b   LeCoutre, Philipp ^c  

^a SCRIPPS RESEARCH INSTITUTE   (United States)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0029057961     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1995.0004     Document Type: Article

References (12)

1. Beutler E, Gelbart T and Demina A. Glucocerebrosidase (GBA) mutations in Gaucher disease. Molecular Medicine 1: 82-92, 1994.
2. Choy FYM, Wei C, Applegarth DA and Yong S-L. A new missense mutation in glucocerebrosidase exon 9 of a non-Jewish Caucasian type 1 Gaucher disease patient. Hum Mol Genet 3: 821-823, 1994.
3. Uchiyama A, Tomatsu S, Kondo N, et al. New Gaucher disease mutations in exon 10: A novel L444R mutation produces a new NciI site the same as L444P. Hum Mol Genet 3: 1183-1184, 1994.
4. Tuteja R, Tuteja N, Lilliu F, et al. Y418C: A novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site. Hum Genet 94: 314-315, 1994.
5. Beutler E, Gelbart T and West C. Identification of six new Gaucher disease mutations. Genomics 15: 203-205, 1993.
6. Horowitz M, Wilder S, Horowitz Z, et al. The human glucocerebrosidase gene and pseudogene: Structure and evolution. Genomics 4: 87-96, 1989.
7. Beutler E and Gelbart T. Two new Gaucher disease mutations. Hum Genet 93: 209-210, 1994.
8. Zimran A, Kay AC, Gelbart T, et al. Gaucher disease: Clinical, laboratory, radiologic and genetic features of 53 patients. Medicine (Baltimore) 71: 337-353, 1992.
9. Tybulewicz VLJ, Tremblay ML, LaMarca ME, et al. Animal model of Gaucher’s disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357: 407-410, 1992.
10. Weil D, Bernard M, Combates N, et al. Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. J Biol Chem 263: 8561-8564, 1988.
11. Sorge J, Gross E, West C and Beutler E. High level transcription of the glucocerebrosidase pseudogene in normal subjects and patients with Gaucher disease. J Clin Invest 86: 1137-1141, 1990.
12. Beutler E, Nguyen NJ, Henneberger MW, et al. Gaucher disease: Gene frequencies in the Ashkenazi Jewish population. Am J Hum Genet 52: 85-88, 1993.