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Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia

✍ Scribed by Nithiwat Vatanavicharn; Somporn Liammongkolkul; Osamu Sakamoto; Achara Sathienkijkanchai; Pornswan Wasant


Book ID
108973284
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
120 KB
Volume
53
Category
Article
ISSN
1328-8067

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Frameshift mutations with severe and mod
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Six frameshift mutations in exon 14 of the factor VIII gene were identified in Thai hemophilia A patients. Although all these mutations created premature stop codons and expected to cause severe disease, the molecular defects and clinical severity were in discrepancy in some patients. Four mutations