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PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

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CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

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Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency

By Vatanavicharn N.   Kuptanon C.   Liammongkolkul S.   Liu T.-T.   Hsiao K.-J.   Ratanarak P.   Blau N.   Wasant P.  

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In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria

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