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Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.
Wiman, Asa; Floderus, Ylva; Harper, Pauline.
Affiliation
  • Wiman A; Porphyria Centre Sweden, C2-71, Department of Medical Laboratory Sciences and Technology, Division of Clinical Chemistry, Karolinska Institute, Huddinge University Hospital, SE-141 86 Stockholm, Sweden. porfyri@swipnet.se
J Hum Genet ; 47(8): 407-12, 2002.
Article in En | MEDLINE | ID: mdl-12181641
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Collection: 01-internacional Database: MEDLINE Main subject: Porphyrias, Hepatic / Coproporphyrinogen Oxidase / Mutation, Missense Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2002 Document type: Article Affiliation country: Suecia
Search on Google
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Porphyrias, Hepatic / Coproporphyrinogen Oxidase / Mutation, Missense Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2002 Document type: Article Affiliation country: Suecia