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PLOS ONE, ISSN 1932-6203, 05/2019, Volume 14, Issue 5, p. e0216674
CRISPR/Cas9 allows the generation of knockout cell lines and null zygotes by inducing site-specific double-stranded breaks. In most cases the DSB is repaired... 
CONSEQUENCES | MUTATIONS | GENE | MULTIDISCIPLINARY SCIENCES | Gene therapy | Usage | CRISPR | Splicing | Exons | Frameshift mutation | Homology | Genomes | mRNA | Gene expression | Zygotes | Efficiency | Cell lines | Alleles | Cell cycle | Non-homologous end joining | Mutation | Deoxyribonucleic acid--DNA | Methods | Cancer | Deoxyribonucleic acid | DNA
Journal Article
Journal of Steroid Biochemistry and Molecular Biology, ISSN 0960-0760, 01/2016, Volume 155, Issue Pt A, pp. 63 - 66
The androgen insensitivity syndrome is an X-linked recessive genetic disorder characterized by resistance to the actions of androgens in an individual with a... 
Androgen insensitivity syndrome | Splice site mutation | Disorder of sex development | Cryptic splice site | Splicing | Androgen receptor | RNA Splicing | RNA Splice Sites | Receptors, Androgen - genetics | Exons | Humans | Karyotyping | Adult | Female | Male | Mutation | Androgen-Insensitivity Syndrome - genetics | Genetic research | Androgens | Genetic aspects | Genes
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2015, Volume 359, Issue 1, pp. 250 - 255
Abstract We identified a novel homozygous mutation in the splice site donor (SSD) of intron 30 (c.5866 + 1G > A) in consanguineous Japanese SPG11 siblings... 
Neurology | Splice site donor mutation | Aberrant transcript | Spastic paraplegia | Nonsense-mediated mRNA decay | SPG11 | Whole-exome sequencing | Proteins - genetics | Magnetic Resonance Imaging | DNA Mutational Analysis | Introns | Humans | Paraplegia - genetics | Adult | Family Health | Female | Male | Mutation - genetics | Mutation - immunology | RNA | Paralysis, Spastic | Genetic aspects
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 09/2001, Volume 7, Issue 9, pp. 2832 - 2839
Deficiency of dihydropyrimidine dehydrogenase (DPD), the rate-limiting enzyme in 5-fluorouracil (5-FU) catabolism, has been linked to toxic side effects of... 
CANCER-PATIENTS | RNA | PHARMACOKINETICS | ONCOLOGY | COLORECTAL-CANCER | POLYMERASE CHAIN-REACTION | PHARMACOGENETICS | FAMILIAL PYRIMIDINEMIA | FLUOROURACIL | DEFICIENCY | CHEMOTHERAPY | Colonic Neoplasms - genetics | Colonic Neoplasms - drug therapy | Humans | Middle Aged | DNA, Complementary - genetics | Male | Diarrhea - chemically induced | Diarrhea - pathology | Fluorouracil - therapeutic use | Breast Neoplasms - enzymology | Rectal Neoplasms - genetics | Fluorouracil - adverse effects | Stomatitis - pathology | Leukopenia - chemically induced | Adult | Female | Rectal Neoplasms - drug therapy | Severity of Illness Index | Stomach Neoplasms - enzymology | Stomach Neoplasms - genetics | Introns - genetics | Oxidoreductases - metabolism | Oxidoreductases - genetics | Alternative Splicing - genetics | Gene Frequency | Exons - genetics | Genotype | Thrombocytopenia - chemically induced | Stomach Neoplasms - drug therapy | Reverse Transcriptase Polymerase Chain Reaction | Thrombocytopenia - pathology | Breast Neoplasms - drug therapy | Leukopenia - pathology | Rectal Neoplasms - enzymology | Homozygote | Point Mutation | Antimetabolites, Antineoplastic - therapeutic use | Breast Neoplasms - genetics | Stomatitis - chemically induced | Antimetabolites, Antineoplastic - adverse effects | Heterozygote | Aged | Colonic Neoplasms - enzymology | Dihydrouracil Dehydrogenase (NADP)
Journal Article
BMC Research Notes, ISSN 1756-0500, 12/2015, Volume 8, Issue 1, pp. 46 - 46
Journal Article
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