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    J Inherit Metab Dis. 2004;27(6):787-8.

    Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.

    Wakutani Y, Nakayasu H, Takeshima T, Adachi M, Kawataki M, Kihira K, Sawada H, Bonno M, Yamamoto H, Nakashima K.

    Department of Neurology, Institute of Neurological Sciences, Tottori University, Yonago 683-8504, Japan. ywaku@grape.med.tottori-u.ac.jp

    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 rom this mutant allele is absent or markedly low.

    PMID: 15617192 [PubMed - indexed for MEDLINE]

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