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Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online.
Hum Mutat. 1999; 13(5):412.HM

Abstract

We have characterised three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. The first of these was a G to A substitution in the 5' splice junction of exon 4 which generated an mRNA that lacked exon 4. The second was a nonsense mutation in exon 5 which changed the arginine residue at position 142 to a stop codon, and the third mutation, also in exon 5, was a triple base substitution from nucleotide position 417 to 419. This mutation encompassed two codons but only changed the amino acid predicted from the second codon, resulting in the replacement of valine with glutamine at position 134. This missense mutation has been described previously by Meguro et al. 1994, on one allele in a compound heterozygote with hepatoerythropoietic porphyria. This is the third case of an hepatoerythropoietic porphyria mutation in an individual diagnosed with familial porphyria cutanea tarda.

Authors+Show Affiliations

Department of Biochemistry, P.O. Royal Melbourne Hospital, Victoria, Australia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

10338097

Citation

McManus, J F., et al. "Three New Mutations in the Uroporphyrinogen Decarboxylase Gene in Familial Porphyria Cutanea Tarda. Mutation in Brief No. 237. Online." Human Mutation, vol. 13, no. 5, 1999, p. 412.
McManus JF, Begley CG, Sassa S, et al. Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online. Hum Mutat. 1999;13(5):412.
McManus, J. F., Begley, C. G., Sassa, S., & Ratnaike, S. (1999). Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online. Human Mutation, 13(5), 412.
McManus JF, et al. Three New Mutations in the Uroporphyrinogen Decarboxylase Gene in Familial Porphyria Cutanea Tarda. Mutation in Brief No. 237. Online. Hum Mutat. 1999;13(5):412. PubMed PMID: 10338097.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online. AU - McManus,J F, AU - Begley,C G, AU - Sassa,S, AU - Ratnaike,S, PY - 1999/5/25/pubmed PY - 2000/6/22/medline PY - 1999/5/25/entrez SP - 412 EP - 412 JF - Human mutation JO - Hum. Mutat. VL - 13 IS - 5 N2 - We have characterised three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. The first of these was a G to A substitution in the 5' splice junction of exon 4 which generated an mRNA that lacked exon 4. The second was a nonsense mutation in exon 5 which changed the arginine residue at position 142 to a stop codon, and the third mutation, also in exon 5, was a triple base substitution from nucleotide position 417 to 419. This mutation encompassed two codons but only changed the amino acid predicted from the second codon, resulting in the replacement of valine with glutamine at position 134. This missense mutation has been described previously by Meguro et al. 1994, on one allele in a compound heterozygote with hepatoerythropoietic porphyria. This is the third case of an hepatoerythropoietic porphyria mutation in an individual diagnosed with familial porphyria cutanea tarda. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/10338097/Three_new_mutations_in_the_uroporphyrinogen_decarboxylase_gene_in_familial_porphyria_cutanea_tarda__Mutation_in_brief_no__237__Online_ L2 - https://doi.org/10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU13>3.0.CO;2-N DB - PRIME DP - Unbound Medicine ER -