Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype-Reference-Cited by-同舟云学术

Novel SLC25A32 mutation in a patient with a severe neuromuscular phenotype

Published:2017-04-26 Issue:7 Volume:25 Page:886-888
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Hellebrekers Debby M E I,Sallevelt Suzanne C E H,Theunissen Tom E J,Hendrickx Alexandra T M,Gottschalk Ralph W,Hoeijmakers Janneke G J,Habets Daphna D,Bierau Jörgen,Schoonderwoerd Kees G,Smeets Hubert J M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201762.pdf

Reference7 articles.

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3. Lek M, Karczewski KJ, Minikel EV et al: Analysis of protein-coding genetic variation in 60706 humans. Nature 2016; 536: 285–291.

4. Kozak M : Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 1986; 44: 283–292.

5. Palmieri F : The mitochondrial transporter family SLC25: identification, properties and physiopathology. Mol Aspects Med 2013; 34: 465–484.

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