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

Muhammad Shakil; Gaurav V. Harlalka; Shamshad Ali; Siying Lin; Ilaria D'Atri; Shabbir Hussain; Abdul Nasir; Muhammad Aiman Shahzad; Muhammad Ikram Ullah; Jay E. Self; Emma L. Baple; Andrew H. Crosby; Saqib Mahmood

doi:10.1038/s41433-019-0436-9

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

Muhammad Shakil
, Gaurav V. Harlalka
, Shamshad Ali
, Siying Lin
, Ilaria D'Atri
, Shabbir Hussain
, Abdul Nasir
, Muhammad Aiman Shahzad
, Muhammad Ikram Ullah
, Jay E. Self
, Emma L. Baple
, Andrew H. Crosby
, Saqib Mahmood

Research output: Contribution to journal › Article (Academic Journal) › peer-review

17 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	1339-1346
Journal	Eye (Basingstoke)
Volume	33
DOIs	https://doi.org/10.1038/s41433-019-0436-9
Publication status	Published - 17 Aug 2019

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Shakil, M., Harlalka, G. V., Ali, S., Lin, S., D'Atri, I., Hussain, S., Nasir, A., Shahzad, M. A., Ullah, M. I., Self, J. E., Baple, E. L., Crosby, A. H., & Mahmood, S. (2019). 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. Eye (Basingstoke), 33, 1339-1346. https://doi.org/10.1038/s41433-019-0436-9

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title = "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",

author = "Muhammad Shakil and Harlalka, \{Gaurav V.\} and Shamshad Ali and Siying Lin and Ilaria D'Atri and Shabbir Hussain and Abdul Nasir and Shahzad, \{Muhammad Aiman\} and Ullah, \{Muhammad Ikram\} and Self, \{Jay E.\} and Baple, \{Emma L.\} and Crosby, \{Andrew H.\} and Saqib Mahmood",

year = "2019",

month = aug,

day = "17",

doi = "10.1038/s41433-019-0436-9",

language = "Undefined/Unknown",

volume = "33",

pages = "1339--1346",

journal = "Eye (Basingstoke)",

issn = "0950-222X",

publisher = "Springer Nature",

}

Shakil, M, Harlalka, GV, Ali, S, Lin, S, D'Atri, I, Hussain, S, Nasir, A, Shahzad, MA, Ullah, MI, Self, JE, Baple, EL, Crosby, AH & Mahmood, S 2019, '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', Eye (Basingstoke), vol. 33, pp. 1339-1346. https://doi.org/10.1038/s41433-019-0436-9

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. / Shakil, Muhammad; Harlalka, Gaurav V.; Ali, Shamshad et al.
In: Eye (Basingstoke), Vol. 33, 17.08.2019, p. 1339-1346.

Research output: Contribution to journal › Article (Academic Journal) › peer-review

TY - JOUR

T1 - 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

AU - Shakil, Muhammad

AU - Harlalka, Gaurav V.

AU - Ali, Shamshad

AU - Lin, Siying

AU - D'Atri, Ilaria

AU - Hussain, Shabbir

AU - Nasir, Abdul

AU - Shahzad, Muhammad Aiman

AU - Ullah, Muhammad Ikram

AU - Self, Jay E.

AU - Baple, Emma L.

AU - Crosby, Andrew H.

AU - Mahmood, Saqib

PY - 2019/8/17

Y1 - 2019/8/17

UR - https://doi.org/10.1038/s41433-019-0436-9

U2 - 10.1038/s41433-019-0436-9

DO - 10.1038/s41433-019-0436-9

M3 - Article (Academic Journal)

C2 - 30996339

SN - 0950-222X

VL - 33

SP - 1339

EP - 1346

JO - Eye (Basingstoke)

JF - Eye (Basingstoke)

ER -

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

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