9q33-q34

Deletions in the 9q33‐q34 region have been reported in patients with early onset epileptic encephalopathy, but a consistent… Expand

Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of… Expand

Genetic alterations in enteropathy-type T-cell lymphoma (ETL) are unknown so far. In this series, 38 cases of ETL were analyzed… Expand

Proteasomes are the multi-subunit protease thought to play a key role in the generation of peptides presented by major… Expand

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Rendu-Weber (ORW) disease is an autosomal dominant vascular dysplasia… Expand

Transforming growth factor-{Beta} (TGF-{beta}) is a multifunctional cytokine, known to modulate several tissue development and… Expand

Nail-patella syndrome (NPS) is an autosomal dominant disorder characterized by dysplasia of nails and patella, decreased mobility… Expand

Erthrocyte band 7.2b is a 31-kDa integral phosphoprotein absent from the erythrocytes of many patients with hereditary… Expand

alpha-1,3-Galactosyltransferase is a terminal glycosyltransferase that is widely expressed in a variety of mammalian species… Expand

We have generated somatic cell hybrids containing fragments of human chromosome arm 9q by an irradiation and fusion technique. No… Expand