Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood-Reference-Cited by-同舟云学术

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

Published:2014-09-17 Issue:6 Volume:23 Page:880-882
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Metodiev Metodi D,Assouline Zahra,Landrieu Pierre,Chretien Dominique,Bader-Meunier Brigitte,Guitton Corinne,Munnich Arnold,Rötig Agnès

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014192.pdf

Reference15 articles.

1. Cotter PD, Rucknagel DL, Bishop DF : X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley. Blood 1994; 84: 3915–3924.

2. Rotig A, Colonna M, Bonnefont JP et al. Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet 1989; 1: 902–903.

3. Riley LG, Cooper S, Hickey P et al. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia—MLASA syndrome. Am J Hum Genet 2010; 87: 52–59.

4. Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N : Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet 2004; 74: 1303–1308.

5. Bader-Meunier B, Rotig A, Mielot F et al. Refractory anaemia and mitochondrial cytopathy in childhood. Br J Haematol 1994; 87: 381–385.

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