Literature DB >> 22220914

Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan.

Pakeeza A Shaiq, Alfred Klausegger, Fawad Muzaffar, Johann W Bauer, Muhammad I Khan, Azra Khanum, Raheel Qamar, Ghazala K Raja.   

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Year:  2012        PMID： 22220914     DOI： 10.1111/j.1346-8138.2011.01464.x

Source DB:  PubMed          Journal:  J Dermatol        ISSN： 0385-2407            Impact factor:   4.005


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  2 in total

1.  Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes.

Authors:  Fehmida F Khan; Naima Khan; Sakina Rehman; Amir Ejaz; Uzma Ali; Muhammad Erfan; Zubair M Ahmed; Muhammad Naeem
Journal:  Biomolecules       Date:  2021-04-22

2.  Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.

Authors:  Ola Abdelhadi; Daniela Iancu; Mehmet Tekman; Horia Stanescu; Detlef Bockenhauer; Robert Kleta
Journal:  Mol Genet Genomic Med       Date:  2016-06-07       Impact factor: 2.183
  2 in total

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