G e m n y (K. A. 1 Communicated by Steve S. Sommer We report the biochemical and molecular characterization of two new transthyretin (TTR) variants in two Italian families with hereditary amyloidosis. Both families presented neuropathy and cardiomyopathy but they differ in other clinical features. T
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis
β Scribed by Alessandra Ferlini; Maria Cristina Patrosso; Monica Repetto; Annalisa Frattini; Anna Villa; Sergio Fini; Fabrizio Salvi; Paolo Vezzoni; Antonino Forabosco
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 323 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Homozygosity for the mutation Cys282Tyr in the HFE gene has recently been identified as a cause of hereditary hemochromatosis, a disorder resulting in the inappropriate absorption of iron. Approximately 10% of Caucasians are heterozygous for this mutation; however, the gene frequency in African Amer
## Abstract Congenital or familial erythrocytosis/polycythemia can have many causes, and an emerging cause is genetic disruption of the oxygenβsensing pathway that regulates the __Erythropoietin__ (__EPO__) gene. More specifically, recent studies have identified erythrocytosisβassociated mutations
## Communicated by N m n Arnheim We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings had fatal infantile cardiomyopathy, whereas in three maternal relatives the disease manifested later in li
## Abstract Autosomal dominant cerebellar ataxias (ADCAs) are genetically classified into spinocerebellar ataxias (SCAs). We describe 14 patients of a Dutch pedigree displaying a distinct SCAβphenotype (SCA27) associated with a F145S mutation in the fibroblast growth factor 14 (FGF14) gene on chrom