MFSD8 gene mutations; evidence for phenotypic heterogeneity

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

(2018) Anastasiya Aleksandrovna Kozina et al.   BMC Medical Genetics

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

UniProt: the universal protein knowledgebase

(2016)   NUCLEIC ACIDS RESEARCH

Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs

(2015) Dana Craiu et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Good laboratory practice for clinical next-generation sequencing informatics pipelines

(2015) Amy S Gargis et al.   NATURE BIOTECHNOLOGY

Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy

(2015) Susanne Roosing et al.   OPHTHALMOLOGY

Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene

(2014) Hanna Mandel et al.   European Journal of Medical Genetics

Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis

(2014) Liliana Catherine Patiño et al.   PLoS One

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

(2013) Feng Wang et al.   HUMAN GENETICS

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

(2012) Alejandro Estrada-Cuzcano et al.   ARCHIVES OF OPHTHALMOLOGY

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy

(2012) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

(2009) Maria Kousi et al.   BRAIN

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

(2009) M. A. Aldahmesh et al.   NEUROGENETICS

Genetische Ursachen erblicher Erkrankungen der Zapfen-Photorezeptoren

(2009) S. Kohl   OPHTHALMOLOGE