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Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.
Aoshima, T; Kajita, M; Sekido, Y; Kikuchi, S; Yasuda, I; Saheki, T; Watanabe, K; Shimokata, K; Niwa, T.
Affiliation
  • Aoshima T; Department of Pediatrics, Nagoya University School of Medicine,Nagoya, Japan.
Hum Hered ; 52(2): 99-101, 2001.
Article in En | MEDLINE | ID: mdl-11474210
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Collection: 01-internacional Database: MEDLINE Main subject: Carbamoyl-Phosphate Synthase (Ammonia) / Carbamoyl-Phosphate Synthase I Deficiency Disease / Mutation Limits: Female / Humans / Infant / Newborn Language: En Journal: Hum Hered Year: 2001 Document type: Article Affiliation country: Japan Country of publication: Switzerland
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PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Carbamoyl-Phosphate Synthase (Ammonia) / Carbamoyl-Phosphate Synthase I Deficiency Disease / Mutation Limits: Female / Humans / Infant / Newborn Language: En Journal: Hum Hered Year: 2001 Document type: Article Affiliation country: Japan Country of publication: Switzerland