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No evidence for genotype/phenotype correlation inNPHS1andNPHS2mutations

✍ Scribed by Michael Schultheiss; Rainer G. Ruf; Bettina E. Mucha; Roger Wiggins; Arno Fuchshuber; Anne Lichtenberger; Friedhelm Hildebrandt


Book ID
106159662
Publisher
Springer
Year
2004
Tongue
English
Weight
155 KB
Volume
19
Category
Article
ISSN
0931-041X

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Spectrum of mutations in MMACHC, allelic
✍ Jordan P. Lerner-Ellis; Natascia Anastasio; Junhui Liu; David Coelho; Terttu Suo 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB

Methylmalonic aciduria and homocystinuria, cblC type, is a rare disorder of intracellular vitamin B 12 (cobalamin [Cbl]) metabolism caused by mutations in the MMACHC gene. MMACHC was sequenced from the gDNA of 118 cblC individuals. Eleven novel mutations were identified, as well as 23 mutations that