期刊
JOURNAL OF INVESTIGATIVE DERMATOLOGY
卷 131, 期 10, 页码 1971-1973出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jid.2011.253
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Identifying genes and mutations in the monogenic inherited skin diseases is a challenging task. Discoveries are cherished but often gene-hunting efforts have gone unrewarded because technology has failed to keep pace with investigators' enthusiasm and clinical resources. But times are changing. The recent arrival of next-generation sequencing has transformed what can now be achieved.
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