PMID- 10594001
OWN - NLM
STAT- MEDLINE
DCOM- 20000107
LR  - 20081120
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 36
IP  - 12
DP  - 1999 Dec
TI  - Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
PG  - 922-3
AB  - Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been 
      shown to be caused by loss of function mutations in the
      homogentisate-1,2-dioxygenase gene (HGO). So far 17 mutations have been
      characterised in AKU patients of different ethnic origin. We describe three novel
      mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected
      by mutational and polymorphism analysis of the HGO gene in five Finnish AKU
      pedigrees. The three novel AKU mutations are most likely specific for the Finnish
      population and have originated recently.
FAU - Beltran-Valero de Bernabe, D
AU  - Beltran-Valero de Bernabe D
AD  - Departamento de Inmunologia, CIB (CSIC), and Unidad de Patologia Molecular,
      Fundacion Jimenez Diaz, Madrid, Spain.
FAU - Peterson, P
AU  - Peterson P
FAU - Luopajarvi, K
AU  - Luopajarvi K
FAU - Matintalo, P
AU  - Matintalo P
FAU - Alho, A
AU  - Alho A
FAU - Konttinen, Y
AU  - Konttinen Y
FAU - Krohn, K
AU  - Krohn K
FAU - Rodriguez de Cordoba, S
AU  - Rodriguez de Cordoba S
FAU - Ranki, A
AU  - Ranki A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - EC 1.13.- (Oxygenases)
RN  - EC 1.13.11.- (Dioxygenases)
RN  - EC 1.13.11.5 (Homogentisate 1,2-Dioxygenase)
SB  - IM
MH  - Alkaptonuria/ethnology/*genetics
MH  - DNA Mutational Analysis
MH  - *Dioxygenases
MH  - Finland
MH  - Homogentisate 1,2-Dioxygenase
MH  - Humans
MH  - Mutation
MH  - Oxygenases/*genetics
MH  - Polymorphism, Genetic
PMC - PMC1734273
EDAT- 1999/12/14 00:00
MHDA- 1999/12/14 00:01
CRDT- 1999/12/14 00:00
PHST- 1999/12/14 00:00 [pubmed]
PHST- 1999/12/14 00:01 [medline]
PHST- 1999/12/14 00:00 [entrez]
PST - ppublish
SO  - J Med Genet. 1999 Dec;36(12):922-3.