PMID- 10094563
OWN - NLM
STAT- MEDLINE
DCOM- 19990323
LR  - 20191103
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 2
DP  - 1999
TI  - Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V
      and V338F) identified. Mutations in brief no. 220. Online.
PG  - 173
AB  - Deficient activity of glucose-6-phosphatase (G6Pase) causes glycogen storage
      disease type Ia (GSD Ia). We analysed the G6Pase gene of 16 GSD Ia patients using
      single strand conformation polymorphism (SSCP) analysis prior to automated
      sequencing of exon(s) revealing an aberrant SSCP pattern. In all GSD Ia patients 
      we were able to identify mutations on both alleles of the G6Pase gene, indicating
      that this method is a reliable procedure to identify mutations. Four novel
      mutations (175delGG, R170X, G266V and V338F) were identified.
FAU - Rake, J P
AU  - Rake JP
AD  - Department of Metabolic Diseases, Beatrix Children's Hospital, University of
      Groningen, The Netherlands.
FAU - ten Berge, A M
AU  - ten Berge AM
FAU - Verlind, E
AU  - Verlind E
FAU - Visser, G
AU  - Visser G
FAU - Niezen-Koning, K E
AU  - Niezen-Koning KE
FAU - Buys, C H
AU  - Buys CH
FAU - Smit, G P
AU  - Smit GP
FAU - Scheffer, H
AU  - Scheffer H
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 3.1.3.9 (Glucose-6-Phosphatase)
SB  - IM
MH  - Amino Acid Substitution/*genetics
MH  - Glucose-6-Phosphatase/genetics
MH  - Glycogen Storage Disease Type I/enzymology/*genetics
MH  - Humans
MH  - Mutation/*genetics
MH  - Sequence Deletion
EDAT- 1999/03/27 03:12
MHDA- 2000/06/22 10:00
CRDT- 1999/03/27 03:12
PHST- 1999/03/27 03:12 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/03/27 03:12 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU19>3.0.CO;2-E [pii]
AID - 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu19>3.0.co;2-e [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(2):173. doi:
      10.1002/(sici)1098-1004(1999)13:2<173::aid-humu19>3.0.co;2-e.