Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis-Reference-Cited by-同舟云学术

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis

Author:

Li Liangshan¹²³,Liu Wenmiao¹²,Xu Yinglei¹²,Li Miaomiao¹²,Tang Qian¹²,Yu Bo⁴,Cai Renmei⁵,Liu Shiguo¹²^ORCID

Affiliation:

1. Medical Genetic Department The Affiliated Hospital of Qingdao University Qingdao China

2. Prenatal Diagnosis Center The Affiliated Hospital of Qingdao University Qingdao China

3. Department of Clinical Laboratory Medical College of Qingdao University Qingdao China

4. Dermatological department The Affiliated Hospital of Qingdao University Qingdao China

5. Prenatal Diagnosis Center Qingdao Municipal Hospital Qingdao China

Funder

Shandong Provincial Natural Science Foundation of China

National Key Research and Development Program of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

Reference22 articles.

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