Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.

Human mutation

Volumn 14, Issue 4, 1999, Pages 352-353

  Climent, C ^a   Garcia Perez M A ^a   Sanjurjo, P ^a   Ruiz Sanz, J I ^a   Vilaseca, M A ^a   Pineda, M ^a   Campistol, J ^a   Rubio, V ^a  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; AMMONIA; DIAGNOSTIC AGENT; MICROSATELLITE DNA; ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; BLOOD; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEMALE; GENE DELETION; GENETICS; HUMAN; INFANT; MUTATION; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME;

ALLOPURINOL; AMINO ACID METABOLISM, INBORN ERRORS; AMMONIA; CHILD, PRESCHOOL; FEMALE; GENE DELETION; HUMANS; INFANT; MICROSATELLITE REPEATS; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; X CHROMOSOME;

EID: 0033208661     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU15>3.0.CO;2-D     Document Type: Article

References (0)