𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new case of Lys146- > Gln mutation of the apolipoprotein E gene

✍ Scribed by M.M. Hoffmann; Y.D. Ko; K. Winkler; A. Grasser; H. Wieland; W. März

Book ID
119439208
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
132 KB
Volume
144
Category
Article
ISSN
0021-9150

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Characterization of the gene for apolipo
Characterization of the gene for apolipoprotein E5-Frankfurt (Gln81 -> Lys, Cys112 -> Arg) by polymerase chain reaction, restriction isotyping, and temperature gradient gel electrophoresis
✍ Viktor Ruzicka; Dr. Winfried Mäz; Andreas Russ; Eva Fisher; Werner Mondorf; Wern 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 691 KB

## Abstract A new apolipoprotein (apo) E variant, apoE5‐Frankfurt, was identified in a 43‐year‐old male with moderate hypercholesterolemia. On isoelectric focusing in an immobilized pH gradient, apoE5‐Frankfurt migrated to a position more cathodic than apoE4 (Cys^112^ ‐> Arg). On sodium dodecyl sul

Identification of a de novo Lys304Gln mu
Identification of a de novo Lys304Gln mutation in the glycine receptor α-1 subunit gene in a Korean infant with hyperekplexia
✍ Hoon-Chul Kang; Su Jeong You; Myung Jae Chey; Jong Sam Baik; Jong-Won Kim; Chang 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 423 KB

## Abstract Startle disease or hyperekplexia (STHE; MIM 149400) is a rare disorder that is characterized by marked muscular hypertonia in infancy and an exaggerated startle response to unexpected acoustic or tactile stimuli. Mutations in the gene encoding the α‐1 subunit of the inhibitory glycine r