Literature DB >> 7627191

Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRTIsar): a further example of clinical heterogeneity in HPRT deficiencies.

R Burgemeister1, E Rötzer, W Gutensohn, M Gehrke, W Schiel.   

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Year:  1995        PMID： 7627191     DOI： 10.1002/humu.1380050413

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


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  1 in total

1.  Characterization of mutants of the vitamin D-binding protein/group-specific component: molecular evolution of GC*1A2 and GC*1A3, common in some Asian populations.

Authors:  I Yuasa; A Kofler; A Braun; K Umetsu; R Bichlmaier; S Kammerer; H Cleve
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132
  1 in total

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