Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)

Annals of Human Genetics

Volumn 70, Issue 6, 2006, Pages 797-801

  Azevedo, Luisa ^a   Soares, P A ^a   Quental, R ^a   Vilarinho, L ^b   Teles, E L ^c   Martins, E ^d   Diogo, L ^e   Garcia, P ^e   Cenni, B ^f   Wermuth, B ^f   Amorim, A ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c HOSPITAL DE SÃO JOÃO   (Portugal)

^d Maria Pia Hospital   (Portugal)

^e Center for Clinical Investigation   (Portugal)

^f UNIVERSITY OF BERN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; ARGININE; ASPARAGINE; ASPARTIC ACID; DNA; GLUTAMIC ACID; GLUTAMINE; GLYCINE; LEUCINE; LIVER ENZYME; LYSINE; ORNITHINE CARBAMOYLTRANSFERASE; OROTIC ACID; PROLINE; TYROSINE; URACIL; UREA;

AMINO ACID SUBSTITUTION; ARGENTINA; ARTICLE; ATAXIA; BEHAVIOR DISORDER; BIOCHEMISTRY; BLOOD SAMPLING; BRAIN DISEASE; BRAZIL; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DNA EXTRACTION; EXON; FEMALE; GENE DELETION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; HYPERAMMONEMIA; LIVER DYSFUNCTION; LIVER TRANSPLANTATION; MALE; METABOLIC ACIDOSIS; MISSENSE MUTATION; MOLECULAR MECHANICS; POINT MUTATION; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; POPULATION GENETICS; PORTUGAL; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; UREA CYCLE;

EXONS; FEMALE; GENETIC MARKERS; GENETICS, POPULATION; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MODELS, GENETIC; MUTATION; ORNITHINE CARBAMOYLTRANSFERASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 33749539324     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2006.00283.x     Document Type: Article

References (17)

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