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Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria. [electronic resource] by
- Calonge, M J
- Volpini, V
- Bisceglia, L
- Rousaud, F
- de Sanctis, L
- Beccia, E
- Zelante, L
- Testar, X
- Zorzano, A
- Estivill, X
Producer: 19951114
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 92
Availability: No items available.
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8.
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Cystinuria type I: identification of eight new mutations in SLC3A1. [electronic resource] by
- Bisceglia, L
- Purroy, J
- Jiménez-Vidal, M
- d'Adamo, A P
- Rousaud, F
- Beccia, E
- Penza, R
- Rizzoni, G
- Gallucci, M
- Palacín, M
- Gasparini, P
- Nunes, V
- Zelante, L
Producer: 20010614
In:
Kidney international vol. 59
Availability: No items available.
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9.
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Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1. [electronic resource] by
- Feliubadaló, L
- Bisceglia, L
- Font, M
- Dello Strologo, L
- Beccia, E
- Arslan-Kirchner, M
- Steinmann, B
- Zelante, L
- Estivill, X
- Zorzano, A
- Palacín, M
- Gasparini, P
- Nunes, V
Producer: 19991122
In:
Genomics vol. 60
Availability: No items available.
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10.
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Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism. [electronic resource] by
- Bisceglia, L
- Calonge, M J
- Dello Strologo, L
- Rizzoni, G
- de Sanctis, L
- Gallucci, M
- Beccia, E
- Testar, X
- Zorzano, A
- Estivill, X
- Zelante, L
- Palacin, M
- Gasparini, P
- Nunes, V
Producer: 19961015
In:
Human genetics vol. 98
Availability: No items available.
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11.
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Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. [electronic resource] by
- Feliubadaló, L
- Font, M
- Purroy, J
- Rousaud, F
- Estivill, X
- Nunes, V
- Golomb, E
- Centola, M
- Aksentijevich, I
- Kreiss, Y
- Goldman, B
- Pras, M
- Kastner, D L
- Pras, E
- Gasparini, P
- Bisceglia, L
- Beccia, E
- Gallucci, M
- de Sanctis, L
- Ponzone, A
- Rizzoni, G F
- Zelante, L
- Bassi, M T
- George, A L
- Manzoni, M
- De Grandi, A
- Riboni, M
- Endsley, J K
- Ballabio, A
- Borsani, G
- Reig, N
- Fernández, E
- Estévez, R
- Pineda, M
- Torrents, D
- Camps, M
- Lloberas, J
- Zorzano, A
- Palacín, M
Producer: 19990923
In:
Nature genetics vol. 23
Availability: No items available.
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