Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset.

Human mutation

Volumn 21, Issue 4, 2003, Pages 444-

  Haberle J ^a   Schmidt, E ^a   Pauli, S ^a   Rapp, B ^a   Christensen, E ^a   Wermuth, B ^a   Koch, H G ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARBAMOYL PHOSPHATE SYNTHASE; MITOCHONDRIAL PROTEIN;

ARTICLE; CHEMISTRY; CHROMOSOME MAP; EXON; FEMALE; GENETICS; HUMAN; HYPERAMMONEMIA; INTRON; MALE; MOLECULAR GENETICS; MORTALITY; MUTATION; NEWBORN; NEWBORN DISEASE; ONSET AGE; RECESSIVE GENE;

AGE OF ONSET; CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA); CHROMOSOME MAPPING; EXONS; FEMALE; GENES, RECESSIVE; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; INTRONS; MALE; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION;

MLCS; MLOWN;

EID: 0037390625     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9118     Document Type: Article

References (0)