Literature DB >> 27681482

Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing.

K Shah1,2, T M Ferrara2,3, A Jan1,4, M Umair1, S Khan4, W Ahmad1, R A Spritz2,3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 27681482     DOI： 10.1111/bjd.15094

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


× No keyword cloud information.
  2 in total

1.  A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.

Authors:  S Khan; M Ansar; A K Khan; K Shah; N Muhammad; S Shahzad; D A Nickerson; M J Bamshad; R L P Santos-Cortez; S M Leal; W Ahmad
Journal:  Br J Dermatol       Date:  2017-12-01       Impact factor: 9.302

2.  Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.

Authors:  Fozia Fozia; Khadim Shah; Rubina Nazli; Sher Alam Khan; Ijaz Ahmad; Noor Mohammad; Saadullah Khan; Amal Alotaibi
Journal:  J Clin Lab Anal       Date:  2021-12-08       Impact factor: 2.352
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.