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S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes

✍ Scribed by Randall Grubbs; Oliver Vugrek; Jeremy Deisch; Conrad Wagner; Sally Stabler; Robert Allen; Ivo Barić; Marko Rados; S. Harvey Mudd

Book ID
106374648
Publisher
Springer
Year
2010
Tongue
English
Weight
613 KB
Volume
33
Category
Article
ISSN
0141-8955

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📜 SIMILAR VOLUMES

S-adenosylhomocysteine hydrolase (AHCY)
S-adenosylhomocysteine hydrolase (AHCY) deficiency: Two novel mutations with lethal outcome
✍ Oliver Vugrek; Robert Belužić; Nikolina Nakić; S. Harvey Mudd 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 477 KB

This paper reports studies of two novel, allelic missense mutations found in the Sadenosylhomocysteine hydrolase (AHCY) gene from a new case of AHCY deficiency in an infant girl who died at age four months. The mutations lead to replacement of arginine with cysteine (p.Arg49Cys) and aspartic acid wi