The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course-Reference-Cited by-同舟云学术

The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course

Author:

Kuper Willemijn F. E.¹^ORCID,Alfen Claudia²,Eck Linda²,Man Stella A.³,Willemsen Marjolein H.⁴,Gassen Koen L. I.⁵,Losekoot Monique⁶,Hasselt Peter M.¹

Affiliation:

1. Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, Utrecht University Utrecht The Netherlands

2. Bartiméus Institute for the Visually Impaired Zeist, Doorn The Netherlands

3. Department of Pediatrics Amphia Hospital Breda The Netherlands

4. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

5. Department of Genetics University Medical Center Utrecht Utrecht The Netherlands

6. Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

Reference18 articles.

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