PMID- 10544227
OWN - NLM
STAT- MEDLINE
DCOM- 20000113
LR  - 20191210
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 36
IP  - 11
DP  - 1999 Nov
TI  - Mutation analysis in patients of Mediterranean descent with Wilson disease:
      identification of 19 novel mutations.
PG  - 833-6
AB  - In this study, we report further results of mutation analysis of the ATP7B gene
      in Wilson disease (WD) patients of Mediterranean origin. A total of 136 WD
      chromosomes, 73 of which were of Italian, 43 of Turkish, 18 of Sardinian, and two
      of Spanish origin, were analysed and the mutation characterised in 84.5% of them.
      We found 50 different mutations of which 19 are novel, including three nonsense, 
      one frameshift, and 15 missense mutations. The mutations detected were rare and
      mostly found in the compound heterozygous state together with other mutations and
      only rarely in homozygosity. Most of these mutations lie in the transmembrane and
      ATP binding loop regions. These data expand our knowledge of both the
      structure-function relationships of the WD protein and the molecular pathology of
      WD, thus improving our capability of prevention and genetic counselling.
FAU - Loudianos, G
AU  - Loudianos G
AD  - Ospedale Regionale per Le Microcitemie ASL 8, Via Jenner s/n, 09100 Cagliari,
      Italy.
FAU - Dessi, V
AU  - Dessi V
FAU - Lovicu, M
AU  - Lovicu M
FAU - Angius, A
AU  - Angius A
FAU - Altuntas, B
AU  - Altuntas B
FAU - Giacchino, R
AU  - Giacchino R
FAU - Marazzi, M
AU  - Marazzi M
FAU - Marcellini, M
AU  - Marcellini M
FAU - Sartorelli, M R
AU  - Sartorelli MR
FAU - Sturniolo, G C
AU  - Sturniolo GC
FAU - Kocak, N
AU  - Kocak N
FAU - Yuce, A
AU  - Yuce A
FAU - Akar, N
AU  - Akar N
FAU - Pirastu, M
AU  - Pirastu M
FAU - Cao, A
AU  - Cao 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  - 0 (Carrier Proteins)
RN  - 0 (Cation Transport Proteins)
RN  - EC 3.6.1.- (Adenosine Triphosphatases)
RN  - EC 7.2.2.8 (ATP7B protein, human)
RN  - EC 7.2.2.8 (Copper-Transporting ATPases)
SB  - IM
MH  - Adenosine Triphosphatases/*genetics
MH  - Carrier Proteins/*genetics
MH  - *Cation Transport Proteins
MH  - Copper-Transporting ATPases
MH  - DNA Mutational Analysis
MH  - Hepatolenticular Degeneration/epidemiology/*genetics
MH  - Heterozygote
MH  - Humans
MH  - Mediterranean Region/epidemiology
MH  - *Mutation
PMC - PMC1734255
EDAT- 1999/11/02 00:00
MHDA- 1999/11/02 00:01
CRDT- 1999/11/02 00:00
PHST- 1999/11/02 00:00 [pubmed]
PHST- 1999/11/02 00:01 [medline]
PHST- 1999/11/02 00:00 [entrez]
PST - ppublish
SO  - J Med Genet. 1999 Nov;36(11):833-6.