✦ LIBER ✦

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

✍ Scribed by Cheon, Chong Kun; Sohn, Young Bae; Ko, Jung Min; Lee, Yeoun Joo; Song, Ji Sun; Moon, Jea Woo; Yang, Bo Kyoung; Ha, Il Soo; Bae, Eun Jung; Jin, Hyun-Seok; Jeong, Seon-Yong

Book ID: 126649050
Publisher: Nature Publishing Group
Year: 2014
Tongue: English
Weight: 910 KB
Volume: 59
Category: Article
ISSN: 1435-232X
DOI: 10.1038/jhg.2014.25

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Absence of deletion and duplication of M

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome

✍ Manuela Priolo; Lucia Micale; Bartolomeo Augello; Carmela Fusco; Federica Zucche 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 385 KB

Identification of two novel ATP6V0A2 mut

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing

✍ Ritelli, Marco; Chiarelli, Nicola; Quinzani, Stefano; Dordoni, Chiara; Venturini 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 810 KB

Exome sequencing in a family with an X-l

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients

✍ Y Tsurusaki; T Kosho; K Hatasaki; Y Narumi; K Wakui; Y Fukushima; H Doi; H Saits 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 871 KB

Identification of Bruton tyrosine kinase

Identification of Bruton tyrosine kinase mutations in 12 Chinese patients with X-linked agammaglobulinaemia by long PCR-direct sequencing

✍ K-W. Chan; T. Chen; L. Jiang; S. F-S. Fok; T-L. Lee; B-W. Lee; X. Yang; Y-L. Lau 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB

Detection of mutations in the COL4A5 gen

Detection of mutations in the COL4A5 gene in over 90% of male patients with x-linked Alport's syndrome by RT-PCR and direct sequencing

✍ Yuji Inoue; Hisahide Nishio; Taku Shirakawa; Koichi Nakanishi; Hajime Nakamura; 📂 Article 📅 1999 🏛 Elsevier Science 🌐 English ⚖ 53 KB

Identification of mutations in the F9 ge

Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B

✍ M.-J. KWON; K.-Y. YOO; H.-J. KIM; S.-H. KIM 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB