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4
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Liver spot
- ... AKU mutation and further evidence of mutation hot spots in the HGO gene. J Med Genet. 2002 ...
- ... the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab. 2003 Apr;78(4):239- ... associated with increased C4-carnitine in newborn blood spots. J Inherit Metab Dis. 2005;28(4):557- ...
- ... This condition is characterized by multiple brown skin spots (lentigines), heart defects, short stature, a sunken or ...
- ... the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not ...