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Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. [electronic resource] by
- Vuillaumier-Barrot, S
- Le Bizec, C
- de Lonlay, P
- Barnier, A
- Mitchell, G
- Pelletier, V
- Prevost, C
- Saudubray, J M
- Durand, G
- Seta, N
Producer: 20021119
In:
Journal of medical genetics vol. 39
Availability: No items available.
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Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. [electronic resource] by
- Dupré, T
- Vuillaumier-Barrot, S
- Chantret, I
- Sadou Yayé, H
- Yayé, H S
- Le Bizec, C
- Afenjar, A
- Altuzarra, C
- Barnérias, C
- Burglen, L
- de Lonlay, P
- Feillet, F
- Napuri, S
- Seta, N
- Moore, S E H
Producer: 20110302
In:
Journal of medical genetics vol. 47
Availability: No items available.
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6.
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Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies. [electronic resource] by
- Vuillaumier-Barrot, S
- Bouchet-Seraphin, C
- Chelbi, M
- Eude-Caye, A
- Charluteau, E
- Besson, C
- Quentin, S
- Devisme, L
- Le Bizec, C
- Landrieu, P
- Goldenberg, A
- Maincent, K
- Loget, P
- Boute, O
- Gilbert-Dussardier, B
- Encha-Razavi, F
- Gonzales, M
- Grandchamp, B
- Seta, N
Producer: 20120217
In:
Neuromuscular disorders : NMD vol. 21
Availability: No items available.
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