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Journal of Current Ophthalmology, ISSN 2452-2325, 06/2019, Volume 31, Issue 2, pp. 172 - 179
To report the genetic analysis of an Iranian Bietti crystalline dystrophy (BCD)-affected family, and to review previously reported mutations in the gene and... 
CYP4V2 mutations | BCD | p.Glu407 | Bietti crystalline dystrophy | CYP4V2
Journal Article
Journal of Ophthalmology, ISSN 2090-004X, 2017, Volume 2017, pp. 4156386 - 4156386
Purpose. To characterize the clinical and molecular genetic characteristics of a large, multigenerational Chinese family showing different phenotypes. Methods.... 
MEDICINE, RESEARCH & EXPERIMENTAL | HPRP3 | OPHTHALMOLOGY | PRPF31 | MUTATIONS | SPLICING-FACTOR GENES | JAPANESE PATIENTS | IDENTIFICATION | CYP4V2 GENE | SPANISH FAMILIES | Family | Genetic aspects | Nucleotide sequencing | Cytochrome P-450 | Medical genetics | DNA sequencing
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, pp. e94960 - e94960
Journal Article
International Journal of Molecular Medicine, ISSN 1107-3756, 4/2014, Volume 33, Issue 4, pp. 913 - 918
Journal Article
Molecular Medicine Reports, ISSN 1791-2997, 12/2018, Volume 18, Issue 6, pp. 4865 - 4876
Cytochrome P450 family 4 (CYP4) enzymes are known as microsomal omega ()-hydroxylases that metabolize fatty acids, eicosanoids, vitamin D and carcinogens.... 
Hepatocellular carcinoma | Prognosis | Diagnosis | Cytochrome P450 family 4 | MEDICINE, RESEARCH & EXPERIMENTAL | diagnosis | PATTERNS | prognosis | cytochrome P450 family 4 | BREAST-CANCER | METABOLISM | ONCOLOGY | CYP4V2 | ENZYMES | hepatocellular carcinoma | PROGRESSION | SUBFAMILY | Immunohistochemistry | Carcinoma, Hepatocellular - mortality | Multigene Family | Liver Neoplasms - genetics | Humans | Middle Aged | RNA, Messenger - genetics | Gene Expression Regulation, Neoplastic | Transcriptome | Male | Gene Expression Profiling | Liver Neoplasms - mortality | Cytochrome P450 Family 4 - metabolism | Neoplasm Grading | Carcinoma, Hepatocellular - genetics | Carcinoma, Hepatocellular - pathology | Liver Neoplasms - metabolism | Adult | Female | Liver Neoplasms - pathology | Aged | Neoplasm Staging | Carcinoma, Hepatocellular - metabolism | Cytochrome P450 Family 4 - genetics | Genetic aspects | Research | Hepatoma | Gene expression | Cytochrome P-450 | Cytochrome | Eicosanoids | Infections | Genomes | Multivariate analysis | Medical diagnosis | Clinical outcomes | Metastases | Confidence intervals | Variables | Liver cancer | Hepatitis | Carcinogens | Vitamin D | Cell cycle | Enzymes | Cytochrome P450 | Fatty acids | Survival analysis | Medical prognosis | Protein expression | Software | Viral infections | Index Medicus
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 2015, Volume 3, Issue 1, pp. 14 - 29
Bietti's crystalline dystrophy (BCD) is a rare, autosomal recessive retinal degenerative disease associated with mutations in CYP4V2. In this study, we... 
4V2 | retinal dystrophy | CYP | Bietti | crystalline dystrophy | CYP4V2 | GENETICS & HEREDITY | Life Sciences | Human health and pathology | Original
Journal Article
Case Reports in Ophthalmology, 09/2011, Volume 2, Issue 3, pp. 296 - 301
To describe the clinical and genetic characteristics of a Japanese family in which one member exhibited Bietti's crystalline corneoretinal dystrophy (BCD).... 
Bietti's crystalline corneoretinal dystrophy | Retinitis pigmentosa | Retinal dystrophy | CYP4V2 gene
Journal Article