Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia
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چکیده
منابع مشابه
the study of aaag repeat polymorphism in promoter of errg gene and its association with the risk of breast cancer in isfahan region
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Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many countries but not in Korea. We examined a three-year old Korean girl who had the typical clinical features of HVDRR including rickets, hypocalcemia, hypophosphatemia, elevated serum calcitriol level and secondary hyperparath...
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PURPOSE To describe the clinical and genetic characteristics of a Japanese family in which one member exhibited Bietti's crystalline corneoretinal dystrophy (BCD). METHODS Using direct sequencing, mutation screening was performed in the CYP4V2 gene of both the patient with BCD and her daughter. Ophthalmic examinations were performed to determine the clinical features of both subjects. RESUL...
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Background and Aims: Hypertyrosinemia type 3 (HT3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. Materials and Methods: The proband was one and ha...
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IntRoductIon Gilbert syndrome (GS, MIM #143500) is characterized by fluctuating mild, unconjugated hyperbilirubinemia <85 μmol/L and is caused by mutations in the bilirubin uridine diphosphate (UDP)‐glucuronosyltransferase gene (UGT1A1).[1] Dubin‐Johnson syndrome (DJS, MIM #237500) is characterized by fluctuating mild, predominantly conjugated hyperbilirubinemia and is caused by mutations in th...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2020
ISSN: 2054-345X
DOI: 10.1038/s41439-020-00112-y