Literature DB >> 8081401

Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene.

K H Laubscher1, R H Glew, R E Lee, R T Okinaka.   

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Year:  1994        PMID： 8081401     DOI： 10.1002/humu.1380030418

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 in total

1.  A sensitive denaturing gradient-Gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region.

Authors:  L A Tully; T J Parsons; R J Steighner; M M Holland; M A Marino; V L Prenger
Journal:  Am J Hum Genet       Date:  2000-06-28       Impact factor: 11.025

2.  Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.

Authors:  H Ida; O M Rennert; H Kawame; K Maekawa; Y Eto
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

3.  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

4.  Glucocerebrosidase mutations in Gaucher disease.

Authors:  E Beutler; A Demina; T Gelbart
Journal:  Mol Med       Date:  1994-11       Impact factor: 6.354
  4 in total

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