PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among the 12 patients with parathyroid cancer, 1 had a germ-line mutation of the HRPT2 at exon 7, codon 234, CGA (Arg) to TGA (Stop), and 1 patient had a tumor-specific mutation at exon 1, nucleotide 34-37 delAACA.
|
20480190 |
2010 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
Biomarker
|
disease |
BEFREE |
In two independent patients with classical xanthinuria type II, we identified a C to T base substitution at nucleotide 1255 in the HMCS gene that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 419.
|
11302742 |
2001 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, three missense mutations (V92M) and two silent mutations (CGA (Arg) to CGG (Arg), codon 213, exon 6) were found in the MC1R and p53 genes, respectively.No mutations were found in p16 or CDK4.
|
10465111 |
1999 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of the mutant PCR products demonstrated a single C-->T mutation, within exon 4, changing codon 227 from CGA (Arg) to TGA (premature termination signal).
|
9066886 |
1997 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We found missense mutations of AAC (Asn) to AGC (Ser) at DCC codon 176 in one cell line and ACC (Thr) to ATC (Ile) at codon 1105 in one cell line and tumor, respectively; polymorphisms of CGA (Arg) to GGA (Gly) at codon 201 and TTT (Phe) to TTG (Leu) at codon 951 in most of the cell lines and tumors; and a silent mutation of GAG (Glu) to GAA (Glu) at codon 118 in four cell lines and five primary tumors.
|
9288786 |
1997 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
Biomarker
|
disease |
BEFREE |
One subject had a C to T base substitution at nucleotide 682 that should cause a CGA (Arg) to TGA (Ter) nonsense substitution at codon 228.
|
9153281 |
1997 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This substitution resulted in a nonsense mutation, CGA (Arg) to TGA (stop), at codon 51.
|
8946118 |
1996 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
Biomarker
|
disease |
BEFREE |
Direct sequencing analysis showed that all mutations were CAA (Gln) to CGA (Arg) transition of codon 61, except for CAA to AAA transversion in one case of follicular carcinoma.
|
7704243 |
1995 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, two single base transitions were identified by direct sequencing: [exon 6; codon 95; CGA (Arg) to TGA (stop)] and [exon 7; codon 172; ACC (Thr) to ACT (Thr)] in either transcript.
|
7479776 |
1995 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Cloning and sequencing of exons I-II, III, and IV and portions of the adjacent introns, amplified by polymerase chain reaction using primers specific for the type II gene, in one male pseudohermaphrodite with salt-wasting classic 3 beta-HSD deficiency congenital adrenal hyperplasia revealed the same mutation in all nine clones of exon IV consisting of a missense mutation at codon 248 [GTC(Val)-->AAC(Asn)] followed by a frameshift mutation at codon 249 [CGA (Arg)-->TA], resulting in a stop codon TAG, and normal sequences of exon I-II and III and the adjacent portions of introns.
|
8284113 |
1993 |
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Exon sequences amplified by polymerase chain reaction showed a C-->T transition at nucleotide 587, resulting in a CGA (Arg)--> TGA (Stop) mutation in exon 5 before the splice site in exon 10, thus preventing synthesis of both HK and LK.
|
7901207 |
1993 |