A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis-Reference-Cited by-同舟云学术

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A frame shift mutation in canine TPP1 (the ortholog of human CLN2) in a juvenile Dachshund with neuronal ceroid lipofuscinosis

Published:2006-11 Issue:3 Volume:89 Page:254-260
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Awano Tomoyuki,Katz Martin L.,O’Brien Dennis P.,Sohar Istvan,Lobel Peter,Coates Joan R.,Khan Shahnawaz,Johnson Gayle C.,Giger Urs,Johnson Gary S.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference28 articles.

1. Comparative biology of the neuronal ceroid-lipofuscinoses: an overview;Jolly;Am. J. Med. Genet.,1995

2. Current state of clinical and morphological features in human NCL;Goebel;Brain Pathol.,2004

3. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses;Mole;Neurogenetics,2005

4. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis;Vesa;Nature,1995

5. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis;Sleat;Science,1997

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