Associated Papers
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Morimoto M et al.
Journal of Medical Genetics, 2024
Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.
Song Y et al.
Bmc Medical Genetics, 2020
31906877 (PubMed )
Supplement: 12881_2019_922_MOESM5_ESM.xlsx › Sheet2
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Chédiak-Higashi syndrome with novel gene mutation.
Helmi MM et al.
Bmj Case Reports, 2017
Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.
Jin Y et al.
Scientific Reports, 2017
Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.
Shimazaki H et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).
Scherber E et al.
Clinical Genetics, 2009
A missense mutation in the WD40 domain of murine Lyst is linked to severe progressive Purkinje cell degeneration.
Rudelius M et al.
Acta Neuropathologica, 2006
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
Zarzour W et al.
Molecular Genetics and Metabolism, 2005
Hereditary Spastic Paraplegia due to LYST Gene Mutation: A Novel Causative Gene.
Mahale RR et al.
Annals of Indian Academy of Neurology, 0
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