PMID- 10447265
OWN - NLM
STAT- MEDLINE
DCOM- 19990921
LR  - 20191210
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 1
DP  - 1999
TI  - Mutation analysis in patients with Wilson disease: identification of 4 novel
      mutations. Mutation in brief no. 250. Online.
PG  - 88
AB  - In order to obtain novel mutations in the recently discovered Wilson disease
      gene, we screened 5 unrelated German individuals for mutations in the 21 exons
      and their flanking intronic sequences. We detected 9 mutations affecting the
      Wilson disease gene. Four of those, designated 802-808delTGTAAGT,
      2008-2013delTATATG, Cys985Thr, and Ile1148Thr have not yet been reported. One
      patient had a homozygous mutation whereas the remaining four subjects were
      compound heterozygous. Therefore these data confirm, that mutations causing
      Wilson disease are frequently found in affected subjects and they are very
      heterogenous.
FAU - Haas, R
AU  - Haas R
AD  - Abteilung Gastroenterologie und Hepatologie, Medizinische Hochschule Hannover,
      Germany.
FAU - Gutierrez-Rivero, B
AU  - Gutierrez-Rivero B
FAU - Knoche, J
AU  - Knoche J
FAU - Boker, K
AU  - Boker K
FAU - Manns, M P
AU  - Manns MP
FAU - Schmidt, H H
AU  - Schmidt HH
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Carrier Proteins)
RN  - 0 (Cation Transport Proteins)
RN  - EC 3.6.1.- (Adenosine Triphosphatases)
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  - Hepatolenticular Degeneration/*genetics
MH  - Humans
MH  - *Mutation
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/08/14 10:00
MHDA- 2000/06/22 10:00
CRDT- 1999/08/14 10:00
PHST- 1999/08/14 10:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/08/14 10:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO;2-H [pii]
AID - 10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO;2-H [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(1):88. doi:
      10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO;2-H.