Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Thuy Thanh T. Pham"'
Autor:
Chi-Bao Bui, Thao Thi Phuong Duong, Vien The Tran, Thuy Thanh T. Pham, Tung Vu, Gia Cac Chau, Thanh-Niem Van Vo, Vinh Nguyen, Dieu-Thuong Thi Trinh, Minh Van Hoang
Publikováno v:
Human Genome Variation, Vol 7, Iss 1, Pp 1-8 (2020)
Human Genome Variation
Human Genome Variation
Xeroderma pigmentosum (XP) group D, a severe disease often typified by extreme sun sensitivity, can be caused by ERCC2 mutations. ERCC2 encodes an adenosine triphosphate (ATP)-dependent DNA helicase, namely XP group D protein (XPD). The XPD, one of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::695b92bea337e97b144f967af6ea05d7
http://link.springer.com/article/10.1038/s41439-020-0089-z
http://link.springer.com/article/10.1038/s41439-020-0089-z
Autor:
Nghia Huynh, Anh Nguyen Lien Phan, Chi-Bao Bui, Thuy Thanh T Pham, Cuc Tran Thu Cao, Duc T. Le, Duong Thuy Nguyen, Tuan M. Nguyen
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Lipopolysaccharide‐responsive and beige‐like anchor (LRBA) deficiency is a rare autosomal recessive common variable immunodeficiency (CVID), affecting 1:25,000–1:50,000 people worldwide. Biallelic mutations in the gene LRBA have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f3ee10b8536d0851e3a405ba93d3054
https://doaj.org/article/8bde6b5ce82d483bbbbca531205f69f2
https://doaj.org/article/8bde6b5ce82d483bbbbca531205f69f2