Author:
Combes Patricia,Bonnet-Dupeyron Marie-Noelle,Gauthier-Barichard Fernande,Schiffmann Raphael,Bertini Enrico,Rodriguez Diana,Armour John A. L.,Boespflug-Tanguy Odile,Vaurs-Barrière Catherine
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics (clinical),Genetics
Reference32 articles.
1. Inoue K, Osaka H, Sugiyama N, Kawanishi C, Onishi H, Nezu A, Kimura K, Yamada Y, Kosaka K (1996) A duplicated PLP gene causing Pelizaeus–Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 59:32–39
2. Wang PJ, Hwu WL, Lee WT, Wang TR, Shen YZ (1997) Duplication of proteolipid protein gene: a possible major cause of Pelizaeus–Merzbacher disease. Pediatr Neurol 17:125–128
3. Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA (1998) Duplication of the proteolipid protein gene is the major cause of Pelizaeus–Merzbacher disease. Neurology 50:1749–1754
4. Mimault C, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O (1999) Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus–Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease. Am J Hum Genet 65:360–369
5. Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O (2000) Genotype–phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. Eur J Hum Genet 8:837–845
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