A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis-Reference-Cited by-同舟云学术

A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

Published:2014-12 Issue:1 Volume:10 Page:
ISSN:1746-6148
Container-title:BMC Veterinary Research
language:en
Short-container-title:BMC Vet Res

Author:

Guo Juyuan,O’Brien Dennis P,Mhlanga-Mutangadura Tendai,Olby Natasha J,Taylor Jeremy F,Schnabel Robert D,Katz Martin L,Johnson Gary S

Publisher

Springer Science and Business Media LLC

Subject

General Veterinary,General Medicine

Link

http://link.springer.com/article/10.1186/s12917-014-0181-z/fulltext.html

Reference48 articles.

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3. Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P: Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 1997, 277:1802–1805.

4. The International Batten Disease Consortium: Isolation of a novel gene underlying Batten disease, CLN3 . Cell 1995, 82:949–957.

5. Nosková L, Stránecký V, Hartmannová H, Pristoupilová A, Barešová V, Ivánek R, Hulková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S: Mutations in DNAJC5 , encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet 2011, 89:241–252.

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