Severe arterial thrombosis in a family with type III protein S deficiency caused by a frameshift mutation in the PROS1 gene
โ Scribed by Torben Bjerregaard Larsen; Klaus Brusgaard; Mads Nybo
- Book ID
- 116914398
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 163 KB
- Volume
- 126
- Category
- Article
- ISSN
- 0049-3848
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
TABLE I. Colony-Forming Assay From CD34 + Bone Marrow Cells Serum a BFU-E/10 2 CD34 + cells Control 1 50.2 ยฑ 4.6 Control 2 48.5 ยฑ 14.1 Before chemotherapy 24.4 ยฑ 6.2 b After chemotherapy 50.5 ยฑ 6.5 Values are means ยฑ SD of triplicate cultures. a Control 1; normal AB serum, Control 2; serum from a pa
A 27-year-old man with negative family history and both parents with normal neurological evaluation and motor nerve conduction velocities (MNCVs) showed onset of severe weakness of feet at 4 years of age. Subsequently he developed left equinovarus deformity, thoracic scoliosis, ulnar nerve enlargeme
DNA sequence analysis of the protein S gene (PROS1) in 22 Spanish probands with type I or III PS deficiency, has allowed the identification of 10 different mutations and 2 new sequence variants in 15 probands. Nine of the mutations, 8 of which are novel, cosegregate with type I or quantitative PS de