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Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations. [electronic resource] by
- Venturi, N
- Rovelli, A
- Parini, R
- Menni, F
- Brambillasca, F
- Bertagnolio, F
- Uziel, G
- Gatti, R
- Filocamo, M
- Donati, M A
- Biondi, A
- Goldwurm, S
Producer: 20021112
In:
Human mutation vol. 20
Availability: No items available.
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Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. [electronic resource] by
- Hobbs, J R
- Hugh-Jones, K
- Barrett, A J
- Byrom, N
- Chambers, D
- Henry, K
- James, D C
- Lucas, C F
- Rogers, T R
- Benson, P F
- Tansley, L R
- Patrick, A D
- Mossman, J
- Young, E P
Producer: 19811215
In:
Lancet (London, England) vol. 2
Availability: No items available.
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135.
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136.
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A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. [electronic resource] by
- Le Merrer, M
- Rousseau, F
- Legeai-Mallet, L
- Landais, J C
- Pelet, A
- Bonaventure, J
- Sanak, M
- Weissenbach, J
- Stoll, C
- Munnich, A
Producer: 19940725
In:
Nature genetics vol. 6
Availability: No items available.
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