Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations

Journal of Inherited Metabolic Disease

Volumn 23, Issue 7, 2000, Pages 669-676

  Genet, S ^a   Cranston, T ^a   Middleton Price, H R ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; OLIGONUCLEOTIDE; ORNITHINE CARBAMOYLTRANSFERASE; PROTEIN TYROSINE KINASE; RESTRICTION ENDONUCLEASE;

ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CPG ISLAND; DIAGNOSTIC PROCEDURE; ENZYME DEFICIENCY; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; POINT MUTATION; PRENATAL DIAGNOSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING;

ALTERNATIVE SPLICING; CODON, NONSENSE; GENE DELETION; HUMANS; MUTATION; MUTATION, MISSENSE; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; POINT MUTATION;

EID: 0033737027     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005614409241     Document Type: Article

References (12)

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3. Structure of the human ornithine transcarbamylase gene
4. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase
5. A new informative NcoI RFLP in the 3'UTR of the OTC gene
6. Human ornithine transcarbamylase locus mapped to band Xp21.1 near the Duchenne muscular dystrophy locus
7. Estimated frequency of urea cycle enzymopathies in Japan
8. A simple efficient method for the separate isolation of RNA and DNA from the same cells
9. The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients
10. Ornithine transcarbamylase polymorphism detected by PCR introduction of DraI site
11. Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency
12. The molecular basis of ornithine transcarbamylase deficiency: Modelling the human enzyme and the effects of mutations