Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in thepyruvate kinase (PKLR) gene

1998 ◽  
Vol 78 (3) ◽  
pp. 233-236 ◽  
Author(s):  
Rivkah Rockah ◽  
Ronit Narinsky ◽  
Moshe Frydman ◽  
Ian J. Cohen ◽  
Rina Zaizov ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Gaucher Disease ◽  
Polymorphic Site ◽  
Disease Mutations

scholarly journals Linkage Disequilibrium Analysis of the Gaucher Disease N370S Mutation

1999 ◽  
Vol 45 (4, Part 2 of 2) ◽  
pp. 137A-137A
Author(s):  
G A Diaz ◽  
B D Gelb ◽  
N Risch ◽  
T Nygaard ◽  
I Maire ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Gaucher Disease ◽  
Linkage Disequilibrium Analysis ◽  
N370s Mutation

Gaucher disease mutations in non-Jewish patients

1993 ◽  
Vol 85 (2) ◽  
pp. 401-405 ◽  
Author(s):  
Ernest Beutler ◽  
Terri Gelbart
Keyword(s):  
Gaucher Disease ◽  
Disease Mutations

Miglustat (NB-DNJ) works as a chaperone for mutated acid β-glucosidase in cells transfected with several Gaucher disease mutations

2005 ◽  
Vol 35 (2) ◽  
pp. 268-276 ◽  
Author(s):  
Pilar Alfonso ◽  
Sandra Pampín ◽  
Jorge Estrada ◽  
José Carlos Rodríguez-Rey ◽  
Pilar Giraldo ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Mutations ◽  
In Cells

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P

1994 ◽  
Vol 3 (7) ◽  
pp. 1183-1184 ◽  
Author(s):  
Atsushi Uchiyama ◽  
Shunji Tomatsu ◽  
Naomi Kondo ◽  
Yasuyuki Suzuki ◽  
Nobuyukl Shlmozawa ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Mutations ◽  
Exon 10

56. Genotype–phenotype correlation of two rarer Gaucher disease mutations

2010 ◽  
Vol 99 (2) ◽  
pp. S19
Author(s):  
Susan Hale ◽  
Lisa Sniderman-King ◽  
Mitzi Murray ◽  
Simon Horslen ◽  
Avery Weiss ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Disease Mutations

Identification of Gaucher disease mutations found in Saudi Arabia

2008 ◽  
Vol 41 (2) ◽  
pp. 200-201 ◽  
Author(s):  
Namik Kaya ◽  
Fatima Al-Zahrani ◽  
Ali Al-Odaib ◽  
Zuhair Rahbeeni ◽  
Zuhair Al-Hassnan ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Gaucher Disease ◽  
Disease Mutations

Six New Gaucher Disease Mutations

1998 ◽  
Vol 99 (2) ◽  
pp. 80-82 ◽  
Author(s):  
Anna Demina ◽  
Ernest Beutler
Keyword(s):  
Gaucher Disease ◽  
Disease Mutations

Five New Gaucher Disease Mutations

1995 ◽  
Vol 21 (1) ◽  
pp. 20-24 ◽  
Author(s):  
Ernest Beutler ◽  
Terri Gelbart ◽  
Anna Demina ◽  
Ari Zimran ◽  
Philipp LeCoutre
Keyword(s):  
Gaucher Disease ◽  
Disease Mutations

Two new Gaucher disease mutations

1994 ◽  
Vol 93 (2) ◽  
Author(s):  
E. Beutler ◽  
T. Gelbart
Keyword(s):  
Gaucher Disease ◽  
Disease Mutations
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