Génétique héréditaire : recherche actuelle

article de recherche

Prevalence of Mefv Gene Mutations and their Association with Clinical Phenotypes in 102 Caucasian Children with Henoch-Schonlein Purpura

• Kolnik M, Toplak N, Debeljak M and Avčin T

article de recherche

Stem Cell Gene Mutation and MTHFR C677T Variants Increased “Risk” in Acute Myeloid Leukemia Patients

• Ajit K Saxena, Shashi and Usha

Rapport de cas

Case Of Severe Unconjugated Hyperbilirubinemia In A Neonate Heterozygous For Gilbert Syndrome

• Rebecca Abell, Berrin Monteleone and Anupama Chawla

Article de révision

Role of Base Excision Repair Enzyme MUTYH in the Repair of 8-Hydroxyguanine and MUTYH-Associated Polyposis (MAP)

• Kazuya Shinmura, Masanori Goto, Hong Tao and Haruhiko Sugimura

article de recherche

A Novel Mutation in Exon 6 of the Epsilon-Sarcoglycan Gene in Myoclonus Dystonia Syndrome

• Hulya Apaydin, Gulcin Benbir, Laurie Ozelius and Sibel Ozekmekci

article de recherche

Familial Aggregation of Hypercholesterolemia in Pakistani Population

• Fauzia Imtiaz and Ahsan A. Vahidy