Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2012
[Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis].
Аннотация на английскомСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Zhou Yong-an, Gao Wei-hua, Yang Jian-ping, Zhang Quan-bin, Zhang Gai-xiu, Liu Jian-ping, Ma Yun-xia, Zhang Xiao-gang, Yu Liang
Аннотация
OBJECTIVE: To establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene.
METHODS: High-resolution melting (HRM) technology was used to detect a c.728G>A mutation in exon 7 in 88 patients with classical type phenylketonuria. Suspected mutations were validated by direct DNA sequencing.
RESULTS: The results detected by HRM are in good agreement with the results obtained by direct sequencing.
CONCLUSION: HRM analysis is a simple, rapid, inexpensive and sensitive method for detecting hot mutational region in exon 7 of PAH gene.
METHODS: High-resolution melting (HRM) technology was used to detect a c.728G>A mutation in exon 7 in 88 patients with classical type phenylketonuria. Suspected mutations were validated by direct DNA sequencing.
RESULTS: The results detected by HRM are in good agreement with the results obtained by direct sequencing.
CONCLUSION: HRM analysis is a simple, rapid, inexpensive and sensitive method for detecting hot mutational region in exon 7 of PAH gene.