TY - JOUR
T1 - Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients
AU - Wakutani, Y.
AU - Nakayasu, H.
AU - Takeshima, T.
AU - Adachi, M.
AU - Kawataki, M.
AU - Kihira, K.
AU - Sawada, H.
AU - Bonno, M.
AU - Yamamoto, H.
AU - Nakashima, K.
PY - 2004
Y1 - 2004
N2 - We describe the results of mutational analysis of the carbamoylphosphate synthetase I (CPSI) gene in three nonconsanguineous patients with CPSI deficiency. Compound heterozygotes of 3422T/G (V1141G) plus 3784C/T (R1262X), 1528delG (510-514 ARQLX) plus 2752T/C (S918P), and 2549G/A (R850H) plus 2797delT (L933X) were identified through genomic analysis; however, the 2797delT (L933X) mutation was not detected in cDNA analysis using biopsied liver, suggesting that mRNA expression from this mutant allele is absent or markedly low.
AB - We describe the results of mutational analysis of the carbamoylphosphate synthetase I (CPSI) gene in three nonconsanguineous patients with CPSI deficiency. Compound heterozygotes of 3422T/G (V1141G) plus 3784C/T (R1262X), 1528delG (510-514 ARQLX) plus 2752T/C (S918P), and 2549G/A (R850H) plus 2797delT (L933X) were identified through genomic analysis; however, the 2797delT (L933X) mutation was not detected in cDNA analysis using biopsied liver, suggesting that mRNA expression from this mutant allele is absent or markedly low.
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U2 - 10.1023/B:BOLI.0000045842.59768.ea
DO - 10.1023/B:BOLI.0000045842.59768.ea
M3 - Article
C2 - 15617192
AN - SCOPUS:7244227862
VL - 27
SP - 787
EP - 788
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 6
ER -