Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.

@article{Cenarro1998IdentificationOR,
  title={Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.},
  author={A Javier Cenarro and Henrik Kjaerulf Jensen and E Casao and Fernando Civeira and J Gonz{\'a}lez-Bonillo and Jos{\'e} Carlos Rodr{\'i}guez-Rey and N. Gregersen and Miguel Pocovi},
  journal={Human mutation},
  year={1998},
  volume={11 5},
  pages={413}
}
We used the single strand conformation polymorphism (SSCP) method to investigate 13 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequences of the low density lipoprotein (LDL) receptor gene. We found 16 aberrant SSCP patterns, and the underlying mutations were characterized by DNA sequencing. Five novel missense mutations, Q71E, C74G, C95R, C281Y and D679E, and one nonsense mutation… CONTINUE READING