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

Research output: Contribution to journal › Letter › peer-review

16 Citations (Scopus)

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

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10.1038/jhg.2015.138

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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",

month = mar,

day = "1",

doi = "10.1038/jhg.2015.138",

language = "English (UK)",

volume = "61",

pages = "271--273",

journal = "Journal of Human Genetics",

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T1 - A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

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

UR - https://www.scopus.com/pages/publications/84962019184

U2 - 10.1038/jhg.2015.138

DO - 10.1038/jhg.2015.138

M3 - Letter

C2 - 26657937

AN - SCOPUS:84962019184

SN - 1434-5161

VL - 61

SP - 271

EP - 273

JO - Journal of Human Genetics

JF - Journal of Human Genetics

IS - 3

ER -

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

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