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+44 28 3718 0055Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
Gregory A Kuzmik Author
Subjects of specialization
Affiliation
Whole Exome Sequencing
Department of Surgery, Yale School of Medicine, New Haven CT, USA
Biography
Gregory A Kuzmik belongs to Department of Surgery intrested in the field Whole Exome Sequencing, Aorta, TAA, FTAA, MYH11Non-standard from Yale School of Medicine, New Haven CT, USA
Publications
Case Report Subscription
Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD
Author(s): Pawel T Pomianowski, Daniel Dykas, Murim Choi, Jingshing Wu, Gregory A Kuzmik, Dawn Ardito, Sandip Mukherjee and John A Elefteriades
Single Amino Acid Deletion in MYH11 Segregating in a Family with TAAD
Background Seven genes have been identified as causative in the development of thoracic aortic aneurysms (TAA) and dissections (TAAD). In this study, we identify a single amino acid deletion in MYH11 gene which segregates with disease in a large TAAD family. Methods We identified five members in one family who had a history of TAA or TAAD. Blood samples from fifteen members of this family were collected for whole exome sequenc... view more»
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