Publications:

Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Genes

Rutkowska, Lena L; Sałacińska, Kinga K; Salachna, Dominik D; Matusik, Paweł P; Pinkier, Iwona I; Kępczyński, Łukasz Ł; Piotrowicz, Małgorzata M; Starostecka, Ewa E; Lewiński, Andrzej A; Gach, Agnieszka A

Publication Date: 2022-06-01

Variant appearance in text: PCSK9: 1336C>T

PubMed Link: 35741760

Variant Present in the following documents:

• genes-13-00999.pdf

View BVdb publication page

Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature.

Internal Medicine (Tokyo, Japan)

Iyama, Keita K; Ikeda, Satoshi S; Koga, Seiji S; Yoshimuta, Tsuyoshi T; Kawano, Hiroaki H; Tsuji, Sosuke S; Ando, Koji K; Matsushima, Kayoko K; Tada, Hayato H; Kawashiri, Masa-Aki MA; Kawakami, Atsushi A; Maemura, Koji K

Publication Date: 2022-04-15

Variant appearance in text: PCSK9: 1336C>T

PubMed Link: 34615826

Variant Present in the following documents:

• 1349-7235-61-1169.pdf

View BVdb publication page