PvuII RFLP Associated with Familial Lipoprotein Lipase Deficiency
نویسندگان
چکیده
منابع مشابه
Familial lipoprotein lipase deficiency – neonatal presentation
A baby girl, born by normal spontaneous vaginal delivery with birth weight 3.845kg, was admitted for neonatal jaundice on day 2 of life. Her mother had maternal gestational diabetes on diet control. Her father was newly diagnosed with hyperlipidaemia on health screen and was put on diet control. There was no consanguinity. Her serum bilirubin level on admission was 186mmol/L with normal liver f...
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The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes for distinct point mutations dispersed throughout the LPL gene. Patient 1 has a G-to-A transition at the first nucleotide of intron 2, which abolishes normal splicing. Patient 2 has a nonsense ...
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We have identified the molecular basis for familial lipoprotein lipase (LPL) deficiency in two unrelated families with the syndrome of familial hyperchylomicronemia. All 10 exons of the LPL gene were amplified from the two probands' genomic DNA by polymerase chain reaction. In family 1 of French descent, direct sequencing of the amplification products revealed that the patient was heterozygous ...
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Alipogene tiparvovec (Glybera®; AMT-011, AAV1-LPL(S447X)) is an adeno-associated virus serotype 1-based gene therapy for adult patients with familial lipoprotein lipase (LPL) deficiency (LPLD) and suffering from severe or multiple pancreatitis attacks despite dietary fat restrictions. It is administered as a one-time series of intramuscular injections in the legs. LPLD, a rare autosomal recessi...
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A 5-yr old male proband and his sister have had hypertriglyceridemia and hepatosplenomegaly since birth. When studied on a metabolic ward, they demonstrated rapid decreases in serum triglycerides on 3 g fat/day diets. Oral glucose tolerance tests were normal. Postheparin lipolytic activity (PHLA) against chylomicrons was virtually absent in both children whereas the mother and a normolipemic si...
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ژورنال
عنوان ژورنال: The Journal of Japan Atherosclerosis Society
سال: 1989
ISSN: 0386-2682,2185-8284
DOI: 10.5551/jat1973.17.5_679