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Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1874 - 1885
Genetic variants in Fukutin‐related protein (FKRP), an essential enzyme of the glycosylation pathway of α‐dystroglycan, can lead to pathologies with different... 
genetic variants | FKRP | LGMD2I | protein quality control | glycosylation | dystroglycan | missense mutations | Dystroglycan | Proteins | Genetic variance | Missense mutation | Enzymatic activity | Protein folding | Quality control | Glycosylation | FCMD protein | Localization | Endoplasmic reticulum | Golgi apparatus | Life Sciences | Biotechnology | Genetics | Molecular biology | Biochemistry, Molecular Biology | Human genetics
Journal Article
NUCLEIC ACIDS RESEARCH, ISSN 0305-1048, 01/2017, Volume 45, Issue D1, pp. D804 - D811
Whole-exome and whole-genome sequencing have facilitated the large-scale discovery of de novo variants in human disease. To date, most de novo discovery... 
INTELLECTUAL DISABILITY | EPILEPTIC ENCEPHALOPATHIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | CONGENITAL HEART-DISEASE | AUTISM SPECTRUM DISORDER | MISSENSE MUTATION | SCHIZOPHRENIA | GENETIC-VARIANTS | SPORADIC ALS | GENOME | SINGLE NUCLEOTIDE POLYMORPHISMS
Journal Article
Journal Article
Journal Article
Protein Science, ISSN 0961-8368, 12/2018, Volume 27, Issue 12, pp. 2101 - 2109
Apolipoprotein A‐I (ApoA‐I)‐related amyloidosis is a rare disease caused by missense mutations in the APOA1 gene. These mutations lead to protein aggregation... 
HDL | high‐density lipoprotein | apolipoprotein A‐I | amyloidosis | high‐yield protein production | apolipoprotein A-I | high-density lipoprotein | high-yield protein production | FIBRILS | CHOLESTEROL | HEREDITARY AMYLOIDOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATIONS | APOLIPOPROTEIN-A-I | Recombinant Proteins - isolation & purification | Apolipoprotein A-I - genetics | Apolipoprotein A-I - isolation & purification | Apolipoprotein A-I - biosynthesis | Escherichia coli - genetics | Humans | Escherichia coli - metabolism | Genetic Variation - genetics | Recombinant Proteins - genetics | Recombinant Proteins - biosynthesis | Amyloidosis | Apolipoproteins | Health aspects | Analysis | Escherichia coli | Amyloidogenesis | Structural integrity | Cell culture | Molecular structure | Protein purification | Liver | Fluorescence | Lipids | Transplantation | Proteins | Apolipoprotein A | Biological effects | Missense mutation | E coli | Nerves | Dichroism | Amyloid | Lipoproteins (high density) | Spectroscopy | Kidneys | Purification | Fibrils | Ovaries | APOA1 gene | Circular dichroism | Skin | Mutation | Protein interaction | Testes | Skin tests | Structure-function relationships | Methods and Applications | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Cell and Molecular Biology | Cell- och molekylärbiologi
Journal Article
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 107 - 115
Journal Article
Molecular Systems Biology, ISSN 1744-4292, 12/2017, Volume 13, Issue 12, pp. 957 - n/a
Journal Article