Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography

Identification of three novel mutations

Identification of three novel mutations in theMNKgene in three unrelated Japanese patients with classical Menkes disease

✍ A. Ogawa; Shigenori Yamamoto; Masaki Takayanagi; Toshiaki Kogo; Masaki Kanazawa; 📂 Article 📅 1999 🏛 Nature Publishing Group 🌐 English ⚖ 84 KB

Pendred syndrome and DFNB4-mutation scre

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

✍ Sai Prasad; Karen A. Kölln; Robert A. Cucci; Richard C. Trembath; Guy Van Camp; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 197 KB 👁 2 views

Identification of three novel mutations

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

✍ Eun Kyung Kim; Ook Joon Yoo; Kyu Young Song; Han Wook Yoo; Sang Yong Choi; Sung 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 2 views

Four mutations-R778L, A874V, L1083F, and 2304delC-in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease. Arg778Leu, the most frequently reported mutation of this enzyme, was found in six of eight unrelated patients studied, an allele frequen

Diagnosis and confirmation of epidermoly

Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography

✍ E.L. Rugg; J.E.A. Common; A. Wilgoss; H.P. Stevens; J. Buchan; I.M. Leigh; D.P. 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB

Denaturing high-performance liquid chrom

Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms

✍ Ling-Ping Lai; Yi-Ning Su; Fu-Tien Chiang; Jyh-Ming Juang; Yen-Bin Liu; Yi-Lwun 📂 Article 📅 2005 🏛 Nature Publishing Group 🌐 English ⚖ 228 KB

Denaturing high-performance liquid chrom

Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms

✍ Ling-Ping Lai; Yi-Ning Su; Fon-Jou Hsieh; Fu-Tien Chiang; Jyh-Ming Juang; Yen-Bi 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 106 KB