Ankyrin–1 mutations are a major cause of dominant and recessive hereditary spherocytosis
✍ Scribed by Eber, Stefan W.; Gonzalez, Jennifer M.; Lux, Marcia L.; Scarpa, Alphonse L.; Tse, William T.; Dornwell, Marion; Herbers, Jutta; Kugler, Wilfried; Ozcan, Refik; Pekrun, Arnulf
- Book ID
- 109916283
- Publisher
- Nature Publishing Group
- Year
- 1996
- Tongue
- English
- Weight
- 560 KB
- Volume
- 13
- Category
- Article
- ISSN
- 1061-4036
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether mutations in RYR1 are a cause of CFTD we sequenced RYR1 in seven CFTD families in whom the other known causes o
Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without a family history of a similar disorder. The earliest disease manifestations are usually fever-associated seizures. Later in life, patients display different types of afebrile s