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Description
Nonsense and frameshift mutations, however, are typically associated with lower carnitine transport and are more prevalent in symptomatic individuals, whereas missense mutations and in-frame deletions (with some residual carnitine transport activity) are more prevalent in asymptomatic mothers identified by newborn screening of their unaffected infants [82]
Samland CJ, Musser RE, Peters JK, Sawyer JT, Owen KQ, Davis DL
In fact, the risk mainly stems from excessive carnitine intake
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USA 91 , 1087810882 (1994)
