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Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report

Crossref DOI link: https://doi.org/10.1186/s12881-018-0532-x

Published Online: 2018-02-20

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Ullah, Muhammad Ikram

Nasir, Abdul

Ahmad, Arsalan

Harlalka, Gaurav Vijay

Ahmad, Wasim

Hassan, Muhammad Jawad

Baple, Emma L.

Crosby, Andrew H.

Chioza, Barry A. https://orcid.org/0000-0002-3546-1726
Funding

Funding for this research was provided by:

Medical Research Council (G1002279)

Higher Education Commission, Pakistan
More Information

Article History

Received: 25 October 2016

Accepted: 24 January 2018

First Online: 20 February 2018

Ethics approval and consent to participate

: Blood samples were collected from the proband and her family members. The study was approved by the Institutional Review Boards of Quaid-i-Azam University, Shifa International Hospital, Shifa Tameer e Millat University, Islamabad, Pakistan and University of Exeter, UK. Written informed consent was obtained from all family members who participated in the study.

: The participants included in this study signed a written informed consent to publish their data (the parents signed on the behalf of the children).

: The authors declare that they have no competing interests.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.