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- Ferlini, A
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An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). [electronic resource] by
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Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47. [electronic resource] by
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- Gawinowicz, M
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Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. [electronic resource] by
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Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. [electronic resource] by
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Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin gene. [electronic resource] by
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- Abbs, S
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Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin. [electronic resource] by
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Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. [electronic resource] by
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In:
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A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. [electronic resource] by
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- Masieri, M Taddei
- Cudia, P
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Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu. [electronic resource] by
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- Ravani, A
- Rimessi, P
- Ferlini, A
- Meletti, S
- Cavallaro, T
- Tassinari, C A
- Martinelli, P
Producer: 20040729
In:
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Rett syndrome: a wide clinical and autonomic picture. [electronic resource] by
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- Ferlini, A
- Bianchi, F
- Tropea, D
- Zappella, M
Publication details: Orphanet journal of rare diseases Sep 2016
In:
Orphanet journal of rare diseases vol. 11
Availability: No items available.
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