Literature DB >> 8829665

A novel missense mutation in the exon containing the putative ornithine-binding domain of the OTC enzyme in a female.

L A Demmer, J M Kim, B de Martinville, S B Dowton.   

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Year:  1996        PMID： 8829665     DOI： 10.1002/(SICI)1098-1004(1996)7:3<279::AID-HUMU16>3.0.CO;2-#

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Authors:  Jin-Ho Choi; Beom Hee Lee; Ja Hye Kim; Gu-Hwan Kim; Yoo-Mi Kim; Jahyang Cho; Chong-Kun Cheon; Jung Min Ko; Jung Hyun Lee; Han-Wook Yoo
Journal:  J Hum Genet       Date:  2015-09       Impact factor: 3.172

2.  Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

Authors:  Farrah Rajabi; Lance H Rodan; Maureen M Jonas; Janet S Soul; Nicole J Ullrich; Ann Wessel; Susan E Waisbren; Wen-Hann Tan; Gerard T Berry
Journal:  JIMD Rep       Date:  2017-09-09
  2 in total

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