Literature DB >> 18647208

Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria.

T-W Kang, S-W Oh, M-R Kim, J S Lee, S-C Kim.   

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Year:  2008        PMID: 18647208     DOI: 10.1111/j.1468-3083.2008.02905.x

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN: 0926-9959            Impact factor:   6.166


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  1 in total

1.  Erythrodontia in congenital erythropoietic porphyria.

Authors:  Rashmi Bhavasar; G Santoshkumar; B Rahul Prakash
Journal:  J Oral Maxillofac Pathol       Date:  2011-01
  1 in total

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