Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s11033-011-0799-x.pdf
Reference26 articles.
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2. Arai H, Nakao K, Takaya K, Hosoda K, Ogawa Y, Nakanishi S, Imura H (1993) The human endothelin-B receptor gene. Structural organization and chromosomal assignment. J Biol Chem 268:3463–3470
3. Attie T, Till M, Pelet A, Amiel J, Edery P, Boutrand L, Munnich A, Lyonnet S (1995) Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Mol Genet 4:2407–2409
4. Auricchio A, Casari G, Staiano A, Ballabio A (1996) Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. Hum Mol Genet 5:351–354
5. Boardman JP, Syrris P, Holder SE, Robertson NJ, Carter N, Lakhoo K (2001) A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. J Med Genet 38:646–647
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