PMID- 10338097
OWN - NLM
STAT- MEDLINE
DCOM- 19990811
LR  - 20041117
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 5
DP  - 1999
TI  - Three new mutations in the uroporphyrinogen decarboxylase gene in familial
      porphyria cutanea tarda. Mutation in brief no. 237. Online.
PG  - 412
AB  - 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.
FAU - McManus, J F
AU  - McManus JF
AD  - Department of Biochemistry, P.O. Royal Melbourne Hospital, Victoria, Australia.
FAU - Begley, C G
AU  - Begley CG
FAU - Sassa, S
AU  - Sassa S
FAU - Ratnaike, S
AU  - Ratnaike S
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 4.1.1.37 (Uroporphyrinogen Decarboxylase)
SB  - IM
MH  - Humans
MH  - *Mutation, Missense
MH  - *Point Mutation
MH  - Porphyria Cutanea Tarda/*genetics
MH  - Uroporphyrinogen Decarboxylase/*genetics
EDAT- 1999/05/25 06:00
MHDA- 2000/06/22 10:00
CRDT- 1999/05/25 06:00
PHST- 1999/05/25 06:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/05/25 06:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU11>3.0.CO;2-T [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU13>3.0.CO;2-N [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(5):412. doi:
      10.1002/(SICI)1098-1004(1999)13:5<412::AID-HUMU13>3.0.CO;2-N.