A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

Muhammad Farooq; Ambrin Fatima; Yuan Mang; Lars Hansen; Klaus Wilbrandt Kjaer; Shahid Mahmood Baig; Lars Allan Larsen; Niels Tommerup

doi:10.1038/jhg.2015.138

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

Muhammad Farooq, Ambrin Fatima, Yuan Mang, Lars Hansen, Klaus Wilbrandt Kjaer, Shahid Mahmood Baig, Lars Allan Larsen, Niels Tommerup

Medical Genetics Program

9 Citations (Scopus)

Original language	English
Journal	Journal of Human Genetics
Volume	61
Issue number	3
Pages (from-to)	271-273
Number of pages	3
ISSN	1434-5161
DOIs	https://doi.org/10.1038/jhg.2015.138
Publication status	Published - 1 Mar 2016

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Cite this

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title = "A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family",

author = "Muhammad Farooq and Ambrin Fatima and Yuan Mang and Lars Hansen and Kjaer, {Klaus Wilbrandt} and Baig, {Shahid Mahmood} and Larsen, {Lars Allan} and Niels Tommerup",

year = "2016",

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doi = "10.1038/jhg.2015.138",

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AU - Farooq, Muhammad

AU - Fatima, Ambrin

AU - Mang, Yuan

AU - Hansen, Lars

AU - Kjaer, Klaus Wilbrandt

AU - Baig, Shahid Mahmood

AU - Larsen, Lars Allan

AU - Tommerup, Niels

PY - 2016/3/1

Y1 - 2016/3/1

U2 - 10.1038/jhg.2015.138

DO - 10.1038/jhg.2015.138

M3 - Comment/debate

C2 - 26657937

SN - 1434-5161

VL - 61

SP - 271

EP - 273

JO - Journal of Human Genetics

JF - Journal of Human Genetics

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