Literature DB >> 8012373

Trinucleotide repeat polymorphism at the PKLR locus.

C Lenzner1, G Jacobasch, A Reis, B Thiele, P Nürnberg.   

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Year:  1994        PMID： 8012373     DOI： 10.1093/hmg/3.3.523-a

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  3 in total

1.  Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Authors:  G A Diaz; B D Gelb; N Risch; T G Nygaard; A Frisch; I J Cohen; C S Miranda; O Amaral; I Maire; L Poenaru; C Caillaud; M Weizberg; P Mistry; R J Desnick
Journal:  Am J Hum Genet       Date:  2000-04-21       Impact factor: 11.025

2.  Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

Authors:  L Baronciani; E Beutler
Journal:  J Clin Invest       Date:  1995-04       Impact factor: 14.808

3.  Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data.

Authors:  R Colombo
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025
  3 in total

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