Literature DB >> 4852265

Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases.

L Cathelineau, J M Saudubray, C Polonovski.   

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Year:  1974        PMID： 4852265     DOI： 10.1159/000459417

Source DB:  PubMed          Journal:  Enzyme        ISSN： 0013-9432


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  4 in total

1.  X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Authors:  F C Ricciuti; T D Gelehrter; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

2.  Abnormal ornithine carbamoyltransferase in mice having the sparse-fur mutation.

Authors:  R DeMars; S L LeVan; B L Trend; L B Russell
Journal:  Proc Natl Acad Sci U S A       Date:  1976-05       Impact factor: 11.205

3.  Carrier detection in ornithine transcarbamylase deficiency.

Authors:  E A Haan; D M Danks; A Grimes; N J Hoogenraad
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

4.  Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.

Authors:  W Holzgreve; M S Golbus
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025
  4 in total

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