Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: Lessons from a compound heterozygous patient

Neuromuscular Disorders

Volumn 10, Issue 3, 2000, Pages 200-205

  Thuillier, L ^a   Sevin, C ^a   Demaugre, F ^a   Brivet, M ^b   Rabier, D ^a   Droin, V ^a   Aupetit, J ^a   Abadi, N ^a   Kamoun, P ^a   Saudubray, J M ^a   Bonnefont, J P ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b BICÊTRE HOSPITAL   (France)

Author keywords

Carnitine palmitoyl transferase II; Fatty acid oxidation

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE;

ARTICLE; CASE REPORT; ENZYME DEFECT; ENZYME DEFICIENCY; EXON; FATTY ACID OXIDATION; FEMALE; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

CARNITINE O-PALMITOYLTRANSFERASE; CHILD; FEMALE; GENOTYPE; HUMANS; MITOCHONDRIAL MYOPATHIES; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 17444437587     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00096-6     Document Type: Article

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