Literature DB >> 34570363

Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16-year-old girl.

Carmen Dietrich1, Martin Salzmann1, Enrico Streit1, Ferdinand Toberer1, Steffen Emmert2, Nicola Dikow3, Holger Haenssle1.   

Abstract

Entities:  

Mesh：

Year:  2021        PMID： 34570363     DOI： 10.1111/ajd.13724

Source DB:  PubMed          Journal:  Australas J Dermatol        ISSN： 0004-8380            Impact factor:   2.875


× No keyword cloud information.
  1 in total

1.  Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families.

Authors:  Ghazala Y Zamani; Ranjha Khan; Noreen Karim; Zubair M Ahmed; Muhammad Naeem
Journal:  Genes (Basel)       Date:  2022-03-19       Impact factor: 4.096
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.