PMID- 10627140
OWN - NLM
STAT- MEDLINE
DCOM- 20000105
LR  - 20061115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 1
DP  - 1998
TI  - A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations
      in brief no. 156. Online.
PG  - 72-3
AB  - In this paper we report a male infant heterozygous for thalassemia with a mild
      glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new
      Class III G6PD variant is a G-->T mutation at nucleotide 34 in the exon 2, which 
      predicts a Val-->Leu aminoacid substitution at codon 12. We designated this
      variant as G6PD Sinnai from the place of birth of the propositus.
FAU - Galanello, R
AU  - Galanello R
AD  - Istituto Clinica Biologia Eta Evolutiva Universita degli Studi di Cagliari,
      Italy. rgalanel@mcweb.unica.it
FAU - Loi, D
AU  - Loi D
FAU - Sollaino, C
AU  - Sollaino C
FAU - Dessi, S
AU  - Dessi S
FAU - Cao, A
AU  - Cao A
FAU - Melis, M A
AU  - Melis MA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Isoenzymes)
RN  - EC 1.1.1.49 (Glucosephosphate Dehydrogenase)
SB  - IM
MH  - Glucosephosphate Dehydrogenase/genetics
MH  - Glucosephosphate Dehydrogenase Deficiency/*genetics
MH  - Humans
MH  - Infant
MH  - Isoenzymes/genetics
MH  - Male
MH  - Mutation/genetics
MH  - Thalassemia/enzymology/genetics
EDAT- 2000/01/08 09:00
MHDA- 2000/06/22 10:00
CRDT- 2000/01/08 09:00
PHST- 2000/01/08 09:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 2000/01/08 09:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU17>3.0.CO;2-Z [pii]
AID - 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU19>3.0.CO;2-T [doi]
PST - ppublish
SO  - Hum Mutat. 1998;12(1):72-3. doi:
      10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU19>3.0.CO;2-T.