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 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Journal of Human Genetics
Vol/bind	61
Udgave nummer	3
Sider (fra-til)	271-273
Antal sider	3
ISSN	1434-5161
DOI	https://doi.org/10.1038/jhg.2015.138
Status	Udgivet - 1 mar. 2016

Adgang til dokumentet

10.1038/jhg.2015.138

jhg2015138.pdfForlagets udgivne version, 460 KB

Citationsformater

@article{05f71eacea8c4c8eb788bf8ab82f5edc,

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",

volume = "61",

pages = "271--273",

journal = "Journal of Human Genetics",

issn = "1434-5161",

publisher = "nature publishing group",

number = "3",

}

TY - JOUR

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

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

IS - 3

ER -