Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.

Journal of inherited metabolic disease

Volumn 30, Issue 5, 2007, Pages 813-

  Arranz, J A ^a   Madrigal, I ^a   Riudor, E ^a   Armengol, L ^a   Mila M ^a  

^a HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

EYE PROTEIN; NERVE PROTEIN; ORNITHINE CARBAMOYLTRANSFERASE; RPGR PROTEIN, HUMAN; TSPAN7 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ARTICLE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; FEMALE; GENE DELETION; GENETICS; GENOTYPE; HOSPITALIZATION; HUMAN; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; SYNDROME; X CHROMOSOME;

CHROMOSOMES, HUMAN, X; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENE DELETION; GENOTYPE; HUMANS; INFANT, NEWBORN; MALE; NERVE TISSUE PROTEINS; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SYNDROME;

EID: 35449002708     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0578-y     Document Type: Article

References (0)