The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

Journal of Medical Genetics

Volumn 47, Issue 10, 2010, Pages 670-676

  Rouzier, C ^a,b   Le Guedard Mereuze S ^c   Fragaki, K ^a,b   Serre, V ^d   Miro, J ^c   Tuffery Giraud, S ^c   Chaussenot, A ^a   Bannwarth, S ^a,b   Caruba, C ^e   Ostergaard, E ^f   Pellissier, J F ^g   Richelme, C ^a   Espil, C ^h   Chabrol, B ^g   Paquis Flucklinger, V ^a,b  

^a CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^b UNIVERSITÉ CÔTE D'AZUR   (France)

^c UNIV MONTPELLIER   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e PASTEUR HOSPITAL   (France)

^f Rigshospitalet   (Denmark)

^g TIMONE HOSPITAL   (France)

^h HÔPITAL PELLEGRIN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN SUCLG1; UNCLASSIFIED DRUG;

ACIDOSIS; ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; EXON; FIBROBLAST; GENE EXPRESSION; HETEROZYGOSITY; HUMAN; INFANT; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FAILURE; SCHOOL CHILD; WESTERN BLOTTING;

AMINO ACID SEQUENCE; CHILD; FATAL OUTCOME; HUMANS; INFANT; MALE; METHYLMALONIC ACID; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SUCCINATE-COA LIGASES;

EID: 77957772054     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.073445     Document Type: Article

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