Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.

Human mutation

Volumn 22, Issue 4, 2003, Pages 340-341

  Funghini, S ^a   Donati, M A ^a   Pasquini, E ^a   Zammarchi, E ^a   Morrone, A ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE;

AMINO ACID SUBSTITUTION; ARTICLE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EXON; FEMALE; GENETIC POLYMORPHISM; GENETICS; HUMAN; INFANT; INTRON; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION; RAT; RNA SPLICING;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; EXONS; FEMALE; HUMANS; INFANT; INTRONS; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMORPHISM, GENETIC; RATS; RNA SPLICE SITES;

EID: 2142857252     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9184     Document Type: Article

References (0)