Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3-Reference-Cited by-同舟云学术

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Published:2018-05-16 Issue:15 Volume:27 Page:2703-2711
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Ansar Muhammad¹,Chung Hyunglok²³,Waryah Yar M⁴,Makrythanasis Periklis¹,Falconnet Emilie¹,Rao Ali Raza⁴,Guipponi Michel¹⁵,Narsani Ashok K⁶,Fingerhut Ralph⁷,Santoni Federico A¹,Ranza Emmanuelle¹⁵,Waryah Ali M⁴,Bellen Hugo J²³⁸,Antonarakis Stylianos E¹⁵⁹

Affiliation:

1. Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

3. Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA

4. Molecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan

5. Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland

6. Institute of Ophthalmology, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan

7. Swiss Newborn Screening Laboratory, University Children's Hospital, Zurich, Switzerland

8. Howard Hughes Medical Institute, Houston, TX, USA

9. iGE3 Institute of Genetics and Genomics of Geneva, Geneva, Switzerland

Funder

Higher Education Commission, Pakistan, NRPU

NIH

Investigator of the Howard Hughes Medical Institute

BCM

IDDRC

NICHD

Bloomington Drosophila Stock Center

Indiana University

Developmental Studies Hybridoma Bank

University of Iowa, Department of Biology

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/27/15/2703/25170224/ddy180.pdf

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