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Sažetak sa skupa

https://doi.org/10.26800/LV-145-supl2-CR48

Innovative Whole Genome Joint Analysis – case report of early diagnosis and preventive approach to HFE Hemochromatosis

Marjan Kulaš ; School of Medicine, University of Zagreb, Zagreb, Croatia
Dina Gržan
Sandro Kukić
Luka Lovrenčić
Mario Ćuk


Puni tekst: engleski pdf 291 Kb

str. 70-70

preuzimanja: 155

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Sažetak

Whole Genome Joint Analysis is an innovative method to elucidate the full spectrum of genome complexities and alterations in the family
members, comprehensively and unbiasedly. Once identified in the preclinical phase of the disease, causative variants can anticipate a personalized preventive approach and medical treatment.

Ključne riječi

Genetic Variations; Primary Hemochromatosis; Whole Genome Sequencing

Hrčak ID:

303903

URI

https://hrcak.srce.hr/303903

Datum izdavanja:

23.4.2023.

Posjeta: 458 *