Literature DB >> 12754713

Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency.

Johannes Häberle, Hans Georg Koch.   

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Year:  2003        PMID： 12754713     DOI： 10.1002/humu.10210

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


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  1 in total

1.  Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.

Authors:  J Häberle; J Denecke; E Schmidt; H G Koch
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982
  1 in total

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