Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

BACKGROUND: Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona fide Mendelian phenotype has the potential to reveal novel genetic causes, which will further our understanding of early human deve...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genome Biol
Egile Nagusiak: Shamseldin, Hanan E., Tulbah, Maha, Kurdi, Wesam, Nemer, Maha, Alsahan, Nada, Al Mardawi, Elham, Khalifa, Ola, Hashem, Amal, Kurdi, Ahmed, Babay, Zainab, Bubshait, Dalal K., Ibrahim, Niema, Abdulwahab, Firdous, Rahbeeni, Zuhair, Hashem, Mais, Alkuraya, Fowzan S.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2015
Gaiak:
Research
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4491988/
https://ncbi.nlm.nih.gov/pubmed/26036949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-015-0681-6
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