𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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


Recessive mutations in RYR1 are a common
✍ Nigel F. Clarke; Leigh B. Waddell; Sandra T. Cooper; Margaret Perry; Robert L.L. 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 531 KB

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

De novo SCN1A mutations are a major caus
✍ Lieve Claes; Berten Ceulemans; Dominique Audenaert; Katrien Smets; Ann Löfgren; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB

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