Open AccessThe Impact of Next Generation Sequencing in Diagnosis and Management of Rare Diseases: Bloom Syndrome
Author(s) -
Ina-Ofelia FOCSA,
Andreea Tutulan-Cuniţă,
Anca Gabriela Pavel,
Diana PREPELITA,
Diana BRATU,
Laurentiu Camil BOHILTEA,
Danae STAMBOULI
Publication year - 2022
Publication title -
modern medicine
Language(s) - English
Resource type - Journals
eISSN - 2360-2473
pISSN - 1223-0472
DOI - 10.31689/rmm.2022.29.3.187
Subject(s) - bloom syndrome , genetic disorder , medicine , bloom , lynch syndrome , cancer , genetics , gene , biology , dna mismatch repair , pathology , disease , helicase , ecology , rna , colorectal cancer