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Results 1 - 10 of 11 > >>
EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.10D571N mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency 1392
Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.10G518E mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency 1392
Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.10L216R mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency 1392
Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.10more identification of naturally occuring mutations leading to multiple carboxylase deficiency, MCD, an autosomal recessive metabolic disorder caused by HLCS deficiency, overview 703282
Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.10N511I mutation idientified in 2-year old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, lactate and methylcitrate levels 745784
Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.10N570K plus mutation c.1519+5GNA, idientified in 5-month old patient with elevated 3-hydroxyisovalerate, and 3-methylcrotonylglycine levels 745784
Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.10R508W mutation within the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency 1392
Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.10R565X/G326E mutation idientified in 18-day old patient with elevated 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine and methylcitrate levels 745784
Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.10R655X mutation identified in 3-year old patient with elevated 3-hydroxybutanoate, 3-hydroxyisovalerate, 3-hydroxypropanoate, 3-methylcrotonylglycine, acetoacetate and lactate levels 745784
Display the word mapDisplay the reaction diagram Show all sequences 6.3.4.10V363D mutation outside the biotin-binding region, HCS deficiency, biotin-responsive multiple carboxylase deficiency 1392
Results 1 - 10 of 11 > >>