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A family with probable JAK3 deficiency & clinical heterogeneity

✍ Scribed by E. Kaminski; G. Perham; F. Candotti; P. Mella; G. Morgan; E. Gerritsen; L. Notarangelo

Book ID
117326055
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
210 KB
Volume
35
Category
Article
ISSN
0161-5890

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Fumarase deficiency (FD), caused by biallelic alteration of the Fumarase Hydratase gene (FH), and a rare metabolic disorder that affects the Krebs cycle, causes severe neurological impairment and fumaric aciduria. Less than 30 unrelated cases are known to date. In addition, heterozygous mutations of