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Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families

Crossref DOI link: https://doi.org/10.1038/s41433-019-0436-9

Published Online: 2019-04-17

Published Print: 2019-08

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

Authors

Shakil, Muhammad

Harlalka, Gaurav V.

Ali, Shamshad

Lin, Siying https://orcid.org/0000-0003-1122-8396
D’Atri, Ilaria https://orcid.org/0000-0002-6432-4931
Hussain, Shabbir

Nasir, Abdul https://orcid.org/0000-0002-2339-3500
Shahzad, Muhammad Aiman https://orcid.org/0000-0002-3143-216X
Ullah, Muhammad Ikram

Self, Jay E.

Baple, Emma L.

Crosby, Andrew H.

Mahmood, Saqib https://orcid.org/0000-0003-2326-3025
Funding

Funding for this research was provided by:

Higher Education Commission, Pakistan (21-1340/SRGP/R&D/HEC/2016)
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Article History

Received: 18 August 2018

Revised: 21 January 2019

Accepted: 25 March 2019

First Online: 17 April 2019

Compliance with ethical standards

:

: The authors declare that they have no conflict of interest.

: Written consent was obtained from all patients or their relatives for publication.

: This study was approved by the ethical approval committee institutional review board of the University of Health Sciences, Lahore, Pakistan.

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