✦ LIBER ✦

A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis

✍ Scribed by Pi-Jung Hsiao; Kun-Bow Tsai; Shyi-Jang Shin; Chiao-Lin Wang; Shu-Ting Lee; Jong-Feng Lee; Kung-Kai Kuo

Book ID: 116651377
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 491 KB
Volume: 47
Category: Article
ISSN: 0168-8278
DOI: 10.1016/j.jhep.2007.04.014

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel missense mutation of theSMPD1gen

A novel missense mutation of theSMPD1gene in a Taiwanese patient with type B Niemann–Pick disease

✍ Min-Yu Lan; Shyh-Jer Lin; Ying-Fa Chen; Cheng-Huei Peng; Yu-Fan Liu 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 144 KB

The Hemochromatosis N144H Mutation of SL

The Hemochromatosis N144H Mutation of SLC11A3 Gene in Patients with Type 2 Diabetes

✍ Omer T. Njajou; Norbert Vaessen; Ben Oostra; Peter Heutink; Cornelia M. Van Duij 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 22 KB

A novel nonsense mutation of MSH2 gene i

A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer

✍ Wen-Chau Chen; Shao-Chieh Lin; Jenq-Chang Lee; 陳文超; 林劭潔; 李政昌 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 376 KB

A novel iduronate 2-sulfatase mutation i

A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II

✍ Xiao-Yan Li, Xiu-Yu Shi, Jun Ju, Xiao-Hong Hu, Xiao-Fan Yang, Li-Ping Zou 📂 Article 📅 2012 🏛 SP Children’s Hospital, Zhejiang University School 🌐 English ⚖ 265 KB

A novel missense mutation, R70W, in the

A novel missense mutation, R70W, in the human uncoupling protein 3 gene in a family with type 2 diabetes

✍ A.M. Brown; S.M. Willi; G. Argyropoulos; W.T. Garvey 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

To follow nomenclature guide. Arg70Trp ## Nucleotide change-Systematic name: Sequential no. in genomic or cDNAsequence. e.g., c1227c->T c.208C>T ## Amino acid change-Trivial name: Codon number and change. e.g., R108W

A novel mutation of keratin 17 gene in a

A novel mutation of keratin 17 gene in a pedigree with pachyonychia congenita type 2

✍ Qiang, Wang; Kaibo, Wang; Tienan, Li; Guilan, Zhao; Yueyang, Liu; Ting, Xiao; Fa 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB