PMID- 10408783
OWN - NLM
STAT- MEDLINE
DCOM- 19991103
LR  - 20191103
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 6
DP  - 1999
TI  - A series of mutations in the dihydropteridine reductase gene resulting in either 
      abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244.
      Online.
PG  - 503-4
AB  - Five novel mutations are described which result in the rare hyperphenylalaninemia
      DHPR-deficiency. Three of these are located at different intron/exon boundaries
      within the DHPR gene, and disrupt the maturation of the DHPR transcript such that
      little full-length mRNA can be detected by RT-PCR. Each mutation alters a
      conserved nucleotide within the splice site consensus sequence, and results in
      the skipping of an exon and, in one case, the activation of an inappropriate
      splicing signal. Two further mutations are missense mutations resulting in a
      non-conservative amino acid change within the DHPR protein (L14P and G17V) and
      are associated with a severe phenotype.
FAU - Smooker, P M
AU  - Smooker PM
AD  - Olive Miller Protein Laboratory, Murdoch Institute for Research into Birth
      Defects, Parkville, Australia.
FAU - Gough, T J
AU  - Gough TJ
FAU - Cotton, R G
AU  - Cotton RG
FAU - Alliaudi, C
AU  - Alliaudi C
FAU - de Sanctis, L
AU  - de Sanctis L
FAU - Dianzani, I
AU  - Dianzani I
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 1.5.1.34 (Dihydropteridine Reductase)
SB  - IM
MH  - *Alternative Splicing
MH  - Dihydropteridine Reductase/*genetics
MH  - Exons
MH  - Humans
MH  - Introns
MH  - Mutation
MH  - Mutation, Missense
MH  - Phenotype
MH  - Reverse Transcriptase Polymerase Chain Reaction
EDAT- 1999/07/17 10:00
MHDA- 2000/06/22 10:00
CRDT- 1999/07/17 10:00
PHST- 1999/07/17 10:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/07/17 10:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU13>3.0.CO;2-F [pii]
AID - 10.1002/(sici)1098-1004(1999)13:6<503::aid-humu13>3.0.co;2-f [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(6):503-4. doi:
      10.1002/(sici)1098-1004(1999)13:6<503::aid-humu13>3.0.co;2-f.