Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

Human Mutation

Volumn 30, Issue 5, 2009, Pages 734-740

  Monnot, Sophie ^a,c   Serre, Valerie ^a,b   Chadefaux Vekemans, Bernadette ^c   Aupetit, Joelle ^c   Romano, Stéphane ^c   De Lonlay, Pascale ^c   Rival, Jean Marie ^d   Munnich, Arnold ^a   Steffann, Julie ^a   Bonnefont, Jean Paul ^a  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d INSTITUT DE BIOLOGIE   (France)

Author keywords

3D modeling; Biotin; Lactic acidosis; PC deficiency; PC gene; PC mutations; Pyruvate carboxylase

Indexed keywords

MESSENGER RNA; PYRUVATE CARBOXYLASE;

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENE DELETION; GENE STRUCTURE; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PYRUVATE CARBOXYLASE DEFICIENCY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PROTEIN STRUCTURE, SECONDARY; PYRUVATE CARBOXYLASE; PYRUVATE CARBOXYLASE DEFICIENCY DISEASE; RNA SPLICE SITES; SEQUENCE ALIGNMENT;

EID: 66749188367     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20908     Document Type: Article

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