Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis-Reference-Cited by-同舟云学术

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Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis

Published:2003-05 Issue:5 Volume:21 Page:502-508
ISSN:1059-7794
Container-title:Human Mutation
language:
Short-container-title:Hum. Mutat.

Author:

Teixeira Carla A.,Espinola Janice,Huo Liang,Kohlschütter Johannes,Persaud Sawin Dixie-Ann,Minassian Berge,Bessa Carlos J. P.,Guimarães A.,Stephan Dietrich A.,Sá Miranda Maria Clara,MacDonald Marcy E.,Ribeiro Maria Gil,Boustany Rose-Mary N.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Cited by 45 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil;Neuropediatrics;2024-06-10

2. Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in CLN6;Genes;2024-05-23

3. Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases;Biology;2024-01-07

4. Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview;Frontiers in Neurology;2022-03-11

5. CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses;Biomedical Research;2021-08-12

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