Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

European Journal of Human Genetics

Volumn 23, Issue 6, 2015, Pages 880-882

  Metodiev, Metodi D ^a   Assouline, Zahra ^b   Landrieu, Pierre ^a   Chretien, Dominique ^a   Bader Meunier, Brigitte ^b   Guitton, Corinne ^c   Munnich, Arnold ^a,b   Rötig, Agnès ^a  

^a IMAGINE INSTITUTE   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c BICÊTRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL PROTEIN; PSEUDOURIDYLATE SYNTHASE 1; SYNTHETASE; UNCLASSIFIED DRUG; HYDROLYASE; PSEUDOURIDYLATE SYNTHETASE;

ABDOMINAL PAIN; ADULT; ARTICLE; BLOOD TRANSFUSION; CASE REPORT; DIARRHEA; FEMALE; GENE EXPRESSION; HUMAN; MISSENSE MUTATION; MUSCLE WEAKNESS; PEARSON SYNDROME; PRIORITY JOURNAL; RESPIRATORY CHAIN; SIDEROBLASTIC ANEMIA; SKELETAL MUSCLE; AMINO ACID SEQUENCE; GENETICS; HOMOZYGOTE; MELAS SYNDROME; MOLECULAR GENETICS;

ADULT; AMINO ACID SEQUENCE; FEMALE; HOMOZYGOTE; HUMANS; HYDRO-LYASES; MELAS SYNDROME; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE;

EID: 84929281581     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.192     Document Type: Article

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