×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC ) in patients with OTC deficiency .
11793483
2002
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Here we show that PBL OTC mRNA analysis is useful to detect genetic lesions in male and female OTCD patients.
10737985
2000
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC ) in Spanish patients with OTC deficiency .
10502831
1999
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients.
10070627
1999
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.
9452065
1998
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
9452049
1998
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Ten novel mutations of the ornithine transcarbamylase (OTC ) gene in OTC deficiency .
9452024
1998
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
The ornithine transcarbamylase (OTC ) gene: mutations in 50 Japanese families with OTC deficiency .
9286441
1997
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia.
9065786
1997
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
As part of a continuing study of ornithine transcarbamylase deficiency , we now report an additional thirty novel mutations in the ornithine transcarbamylase gene, together with a brief summary of their clinical presentations.
9266388
1997
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
9143919
1997
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
8956045
1996
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
8807340
1996
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
To investigate molecular lesions resulting in OTC deficiency , the OTC genes of unrelated symptomatic or asymptomatic female heterozygotes were amplified exon by exon and analysed by direct sequencing of double-stranded DNA.
8830175
1996
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
8956038
1996
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC ) gene causing neonatal onset of OTC deficiency .
7474905
1995
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Four novel mutations are identified in the ornithine transcarbamylase (OTC ) gene, in four patients with OTC deficiency (an X-linked disorder).
8530002
1995
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Four newly identified ornithine transcarbamylase (OTC ) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency .
8081398
1994
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
8081373
1994
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Seven new mutations in the human ornithine transcarbamylase gene.
7951259
1994
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
"The ornithine transcarbamylase gene: new ""private"" mutations in four patients and study of a polymorphism."
8019569
1994
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.
8112735
1994
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
8099056
1993
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
We describe six new mutations in the ornithine transcarbamylase (OTC ) gene found in patients with OTC deficiency .
1480464
1992
×
Entrez Id:
5009
Gene Symbol:
OTC
OTC
Ornithine carbamoyltransferase deficiency
1.000
GeneticVariation
UNIPROT
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene.
1721894
1991