Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency

Molecular Genetics and Metabolism

Volumn 94, Issue 3, 2008, Pages 292-297

  Engel, Katharina ^a   Nuoffer, Jean Marc ^b   Mühlhausen, Chris ^c   Klaus, Vera ^a   Largiadèr, Carlo R ^b   Tsiakas, Konstantinos ^c   Santer, René ^c   Wermuth, Bendicht ^b   Häberle, Johannes ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY OF BERN   (Switzerland)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Liver biopsy; mRNA analysis; Ornithine transcarbamylase; Urea cycle defect

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; ORNITHINE CARBAMOYLTRANSFERASE; UREA;

ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; DISEASE COURSE; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; LABORATORY TEST; LIVER BIOPSY; MALE; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA TRANSCRIPTION; UREA CYCLE;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; ORNITHINE CARBAMOYLTRANSFERASE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; RNA, MESSENGER; SENSITIVITY AND SPECIFICITY;

EID: 44649171579     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.03.009     Document Type: Article

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