Inherited Metabolic Rare Disease
Author:
Publisher
Springer Netherlands
Link
http://link.springer.com/content/pdf/10.1007/978-90-481-9485-8_23
Reference107 articles.
1. Aarstma-Rus A, Janson AM, Kaman WE, Bremmer-Bout M, van Ommen G-JB, den Dunnen JT, van Deutekom JCT (2004) Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. Am J Hum Genet 74:83–92
2. Adams PC, Barton JC (2007) Haemochromatosis. Lancet 370:1855–1860
3. American College of Medical Genetics (2005) Newborn screening: toward a uniform screening panel and system. Washington, DC (Available in http://mchb.hrsa.gov/creening )
4. American College of Obstetriciens and Gynecologist Committee opinion (2005) Update on carrier screening for Cystic fibrosis. Obstet Gynecol 106(6):1465–1468
5. Andersen B, Zoega T (1999) Icelandic genetics. Nature Biotechnol 17:517
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