A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV-Reference-Cited by-同舟云学术

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A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV

Published:2013-09 Issue:2 Volume:526 Page:464-466
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

AlBakheet AlBandary,Qari Aliya,Colak Dilek,Rasheed Anas,Kaya Namik,Al-Sayed Moeenaldeen

Funder

King Faisal Specialist Hospital and Research Center (KFSHRC)

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference17 articles.

1. A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3–p13.2;Acierno;Genomics,2001

2. Novel mutation in GLRB in a large family with hereditary hyperekplexia;Al-Owain;Clin. Genet.,2012

3. Clinical and biochemical features associated with BCS1L mutation;Al-Owain;J. Inherit. Metab. Dis.,2012

4. The neurogenetics of mucolipidosis type IV;Altarescu;Neurology,2002

5. The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations;Bach;Hum. Mutat.,2005

Cited by 10 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. A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2024-03-27

2. The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV;Journal of Pediatric Ophthalmology & Strabismus;2022-09

3. Involvement of the TRPML Mucolipin Channels in Viral Infections and Anti-viral Innate Immune Responses;Frontiers in Immunology;2020-04-29

4. Oligosaccharidosen und verwandte Krankheiten;Pädiatrie;2020

5. Oligosaccharidosen und verwandte Krankheiten;Pädiatrie;2019

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