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A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N‐glycans in patient's serum
by
Ziburová, Jana
,
Nemčovič, Marek
,
Šesták, Sergej
,
Bellová, Jana
,
Pakanová, Zuzana
,
Siváková, Barbara
,
Šalingová, Anna
,
Šebová, Claudia
,
Ostrožlíková, Mária
,
Lekka, Dimitra‐Evanthia
,
Brucknerová, Jana
,
Brucknerová, Ingrid
,
Skokňová, Martina
,
Mc Cullough, Alexandra
,
Hrčková, Gabriela
,
Hlavatá, Anna
,
Bzdúch, Vladimír
,
Mucha, Ján
,
Baráth, Peter
Published in
American journal of medical genetics. Part A
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Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: the MEDPED Slovakia Project
by
Vohnout, Branislav
,
Rašlová, Katarı́
,
na
,
Gašparovic̆, Juraj
,
Franeková, Jana
,
Fábryová, Lubomı́
,
ra
,
Belošovic̆ová, Martina
,
Kovác̆, Gustáv
,
Šebová, Claudia
,
Rajecová, Eva
,
Stavný, Jozef
,
Babjak, Miron
,
Donati, Maria B.
,
Iacoviello, Licia
Published in
Atherosclerosis. Supplements
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American Journal Of Medical Genetics. Part A
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Atherosclerosis. Supplements
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Alg12-Cdg
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Amino Acid Substitution
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Apo E
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Cdg Ig
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Congenital Disorders Of Glycosylation - Epidemiology
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