Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2004-11

AUTHORS

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

ABSTRACT

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. More... »

PAGES

787-788

Identifiers

URI

http://scigraph.springernature.com/pub.10.1023/b:boli.0000045842.59768.ea

DOI

http://dx.doi.org/10.1023/b:boli.0000045842.59768.ea

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022752403

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15617192


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