A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family-Reference-Cited by-同舟云学术

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

Published:2019-03-20 Issue:9 Volume:129 Page:890-895
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Sher Muhammad¹,Farooq Muhammad²,Abdullah Uzma¹,Ali Zafar¹,Faryal Sanam¹,Zakaria Mohammad¹³,Ullah Farid¹,Bukhari Hassan⁴,Møller Rikke S.⁵,Tommerup Niels⁶,Baig Shahid Mahmood¹

Affiliation:

1. Human Molecular Genetics Laboratory, National Institute for Biotechnology and Genetic Engineering (NIBGE)-PIEAS, Faisalabad, Pakistan;

2. Department of Bioinformatics and Biotechnology, Government College University Faisalabad, Pakistan;

3. Department of Genetics, Hazara University, Mansehra, Pakistan;

4. Radiology Department, Allied Hospital, Faisalabad, Pakistan;

5. Danish Epilepsy Centre, Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark;

6. Department of Cellular and Molecular Medicine, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark

Funder

Higher Education Commission

The Lundbeck Foundation

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2019.1586686

Reference36 articles.

1. The Neuronal Ceroid-Lipofuscinoses

2. A Novel c.1135_1138delCTGT Mutation in CLN3 Leads to Juvenile Neuronal Ceroid Lipofuscinosis

3. Reconsideration of the classification of the neuronal ceroid-lipofuscinoses

4. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

5. Neuronal ceroid lipofuscinoses