Concepedia

High Prevalence of the 55-bp Deletion (c.1263del55) in Exon 9 of the Glucocerebrosidase Gene Causing Misdiagnosis (for Homozygous N370S (c.1226A > G) Mutation) in Spanish Gaucher Disease Patients

Miguel Ángel Torralba, Pilar Alfonso, Juan Ignacio Pérez‐Calvo, Ana Cenarro, Gregory M. Pastores, Pilar Giraldo, F. Civeira, Miguel Pocovı́

Blood Cells Molecules and Diseases · 2002 · 20 citations · 15 references

DOI

Concepts

References

15

The human glucocerebrosidase gene and pseudogene: Structure and evolution

Mia Horowitz, Sylvia Wilder, Zeev Horowitz et al. · Genomics · 1989 · 433 citations

, , +12

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.

Ernest Beutler, Terri Gelbart, W Kühl et al. · Proceedings of the National Academy of Sciences · 1991 · 138 citations

, , +17

Mutations in Jewish patients with Gaucher disease

Ernest Beutler, Terri Gelbart, W Kühl et al. · Blood · 1992 · 127 citations · Full text

, , +11

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease.

S. S. Raghavan, J Topol, Edwin H. Kolodny · PubMed · 1980 · 124 citations

, , +6

Prevalent and rare mutations among Gaucher patients

Nurit Eyal, Sylvia Wilder, Mia Horowitz · Gene · 1990 · 121 citations

, , +14