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Literature DB >> 9040001

D409H/D409H genotype in Gaucher-like disease.

E Uyama, M Uchino, H Ida, Y Eto, M Owada.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
Glucosylceramidase

Year: 1997 PMID： 9040001 PMCID： PMC1050881 DOI： 10.1136/jmg.34.2.175

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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10 in total

1. Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease.

Authors: A Zimran; T Gelbart; E Beutler
Journal: Am J Hum Genet Date: 1990-05 Impact factor: 11.025

2. 1342C mutation in Gaucher's disease.

Authors: E Beutler; C Kattamis; J Sipe; M Lipson
Journal: Lancet Date: 1995-12-16 Impact factor: 79.321

3. Genotype/phenotype correlations in Gaucher's disease.

Authors: P K Mistry
Journal: Lancet Date: 1995-10-14 Impact factor: 79.321

4. Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations.

Authors: H Ida; K Iwasawa; H Kawame; O M Rennert; K Maekawa; Y Eto
Journal: Hum Genet Date: 1995-06 Impact factor: 4.132

5. Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.

Authors: D Glenn; T Gelbart; E Beutler
Journal: Hum Genet Date: 1994-06 Impact factor: 4.132

6. Structure and organization of the human metaxin gene (MTX) and pseudogene.

Authors: G L Long; S Winfield; K W Adolph; E I Ginns; P Bornstein
Journal: Genomics Date: 1996-04-15 Impact factor: 5.736

7. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.

Authors: A Abrahamov; D Elstein; V Gross-Tsur; B Farber; Y Glaser; I Hadas-Halpern; S Ronen; M Tafakjdi; M Horowitz; A Zimran
Journal: Lancet Date: 1995-10-14 Impact factor: 79.321

8. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.

Authors: P Bornstein; C E McKinney; M E LaMarca; S Winfield; T Shingu; S Devarayalu; H L Vos; E I Ginns
Journal: Proc Natl Acad Sci U S A Date: 1995-05-09 Impact factor: 11.205

9. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells.

Authors: E Uyama; K Takahashi; M Owada; R Okamura; M Naito; S Tsuji; S Kawasaki; S Araki
Journal: Acta Neurol Scand Date: 1992-10 Impact factor: 3.209

10. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Authors: A Chabás; B Cormand; D Grinberg; J M Burguera; S Balcells; J L Merino; I Mate; J A Sobrino; R Gonzàlez-Duarte; L Vilageliu
Journal: J Med Genet Date: 1995-09 Impact factor: 6.318

10 in total

8 in total

1. Gaucher disease plus.

Authors: E Sidransky; E I Ginns
Journal: J Med Genet Date: 1997-10 Impact factor: 6.318

2. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Authors: V Koprivica; D L Stone; J K Park; M Callahan; A Frisch; I J Cohen; N Tayebi; E Sidransky
Journal: Am J Hum Genet Date: 2000-05-04 Impact factor: 11.025

3. Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

Authors: A Chabás; L Gort; M Montfort; F Castelló; M C Domínguez; D Grinberg; L Vilageliu
Journal: J Med Genet Date: 1998-09 Impact factor: 6.318