Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

Molecular Genetics and Metabolism

Volumn 103, Issue 4, 2011, Pages 341-348

  Boutron, A ^a   Acquaviva, C ^b   Vianey Saban, C ^b   de Lonlay, P ^c   de Baulny, H Ogier ^d   Guffon, N ^b   Dobbelaere, D ^e   Feillet, F ^f   Labarthe, F ^g   Lamireau, D ^h   Cano, A ⁱ   de Villemeur, T Billette ^j   Munnich, A ^c   Saudubray, J M ^c   Rabier, D ^c   Rigal, O ^d   Brivet, M ^a  

^a BICÊTRE HOSPITAL   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f Hôpital des Enfants   (France)

^g CHU BRETONNEAU   (France)

^h HÔPITAL PELLEGRIN   (France)

ⁱ TIMONE HOSPITAL   (France)

^j ARMAND TROUSSEAU HOSPITAL   (France)

more..

Author keywords

Acute fatty liver of pregnancy; Deletion; HADHA gene; HADHB gene; Mitochondrial trifunctional protein; Nonsense mRNA mediated decay

Indexed keywords

COMPLEMENTARY DNA; EMETINE; LONG CHAIN ACYL COENZYME A DEHYDROGENASE; MITOCHONDRIAL PROTEIN; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN; UNCLASSIFIED DRUG;

ACUTE FATTY LIVER OF PREGNANCY; ADULT; ALLELE; ARTICLE; CHILD; DNA DETERMINATION; EXON SKIPPING; FATTY LIVER; FEMALE; FETUS; FIBROBLAST; FRAMESHIFT MUTATION; FRANCE; GENE; GENE DELETION; GENE LOCATION; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; HADHA GENE; HADHB GENE; HELLP SYNDROME; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; INTRON RETENTION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MUTATION; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PREGNANCY; PREMATURE TERMINATION CODON; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEFICIENCY; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; STOP CODON;

BASE SEQUENCE; COHORT STUDIES; DNA, COMPLEMENTARY; FEMALE; FRANCE; HAPLOINSUFFICIENCY; HUMANS; LIPID METABOLISM DISORDERS; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 79960843451     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.04.006     Document Type: Article

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