Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A-Reference-Cited by-同舟云学术

Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A

Published:2017-01-04 Issue:3 Volume:25 Page:315-323
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kara Bülent,Köroğlu Çiğdem,Peltonen Karita,Steinberg Ruchama C,Maraş Genç Hülya,Hölttä-Vuori Maarit,Güven Ayşe,Kanerva Kristiina,Kotil Tuğba,Solakoğlu Seyhun,Zhou You,Olkkonen Vesa M,Ikonen Elina,Laiho Marikki,Tolun Aslıhan

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2016183.pdf

Reference30 articles.

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4. Bernard G, Chouery E, Putorti ML et al: Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet 2011; 89: 415–423.

5. Saitsu H, Osaka H, Sasaki M et al: Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet 2011; 89: 644–651.

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