PMID- 10453743
OWN - NLM
STAT- MEDLINE
DCOM- 19990902
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 6
DP  - 1999 Jun
TI  - Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new 
      mutations in the alanine: glyoxylate aminotransferase gene.
PG  - 523-5
AB  - Systematic screening using the SSCP technique followed by sequencing of bands
      with abnormal mobility derived from the AGXT exons of 15 unrelated Italian
      patients with primary hyperoxaluria type 1 (PH1) allowed us to characterize both 
      the mutant alleles in each individual. Eight new mutations were identified:
      C155del, C156ins, G244T, C252T, GAG408ins, G468A, G588A and G1098del. This study 
      demonstrates both the effectiveness of the screening strategy chosen to identify 
      all the mutant alleles and the high degree of allelic heterogeneity in PH1.
FAU - Pirulli, D
AU  - Pirulli D
AD  - Cattedra e Servizio de Genetica Medica, IRCSS Burlo Garofolo e Universita di
      Trieste, Italy.
FAU - Puzzer, D
AU  - Puzzer D
FAU - Ferri, L
AU  - Ferri L
FAU - Crovella, S
AU  - Crovella S
FAU - Amoroso, A
AU  - Amoroso A
FAU - Ferrettini, C
AU  - Ferrettini C
FAU - Marangella, M
AU  - Marangella M
FAU - Mazzola, G
AU  - Mazzola G
FAU - Florian, F
AU  - Florian F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - EC 2.6.1.- (Transaminases)
RN  - EC 2.6.1.- (glyoxylate aminotransferase)
RN  - OF5P57N2ZX (Alanine)
SB  - IM
MH  - Alanine/*genetics
MH  - Base Sequence
MH  - Exons
MH  - Gene Deletion
MH  - Humans
MH  - Hyperoxaluria/*genetics
MH  - Italy
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Point Mutation
MH  - Polymorphism, Genetic
MH  - Polymorphism, Single-Stranded Conformational
MH  - Sequence Analysis, DNA
MH  - Transaminases/*genetics/metabolism
EDAT- 1999/08/24 00:00
MHDA- 1999/08/24 00:01
CRDT- 1999/08/24 00:00
PHST- 1999/08/24 00:00 [pubmed]
PHST- 1999/08/24 00:01 [medline]
PHST- 1999/08/24 00:00 [entrez]
AID - 10.1007/s004390050998 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Jun;104(6):523-5. doi: 10.1007/s004390050998.