Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene

Clinical Genetics

Volumn 75, Issue 5, 2009, Pages 457-464

  Quental, Rita ^a   Azevedo, L ^a   Rubio, V ^b   Diogo, L ^c   Amorim, A ^a  

^a UNIVERSITY OF PORTO   (Portugal)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c Center for Clinical Investigation   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ACIDURIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DNA FLANKING REGION; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HYPERAMMONEMIA; INTRON; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

BASE SEQUENCE; FEMALE; GENE DELETION; GENOME, HUMAN; HUMANS; MALE; MOLECULAR SEQUENCE DATA; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE;

EID: 65449156845     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01172.x     Document Type: Article

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