Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Lin Li; Xiaodong Jiao; Ilaria D’Atri; Fumihito Ono; Ralph Nelson; Chi Chao Chan; Naoki Nakaya; Z Ma; Y Ma; Xiaoying Cai; Longhua Zhang; Siying Lin; Abdul Hameed; Barry A. Chioza; Holly Hardy; Gavin Arno; Sarah Hull; Muhammad Imran Khan; James Fasham; Gaurav V. Harlalka; Michel Michaelides; Anthony T. Moore; Akdemir ZH Coban; Shalini Jhangiani; James R. Lupski; Frans P.M. Cremers; Raheel Qamar; Ahmed Salman; John Chilton; Jay Self; Radha Ayyagari; Firoz Kabir; Muhammad Asif Naeem; Muhammad Ali; Javed Akram; Paul A. Sieving; S Riazuddin; Emma L. Baple; SA Riazuddin; Andrew H. Crosby; J. Fielding Hejtmancik

doi:10.1371/journal.pgen.1007504

Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

Lin Li
, Xiaodong Jiao
, Ilaria D’Atri
, Fumihito Ono
, Ralph Nelson
, Chi Chao Chan
, Naoki Nakaya
, Z Ma
, Y Ma
, Xiaoying Cai
, Longhua Zhang
, Siying Lin
, Abdul Hameed
, Barry A. Chioza
, Holly Hardy
, Gavin Arno
, Sarah Hull
, Muhammad Imran Khan
, James Fasham
, Gaurav V. Harlalka

Michel Michaelides, Anthony T. Moore, Akdemir ZH Coban, Shalini Jhangiani, James R. Lupski, Frans P.M. Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A. Sieving, S Riazuddin, Emma L. Baple, SA Riazuddin, Andrew H. Crosby, J. Fielding Hejtmancik^*

^*Corresponding author for this work

Peninsula Medical School

National Institutes of Health
Shanghai Jiao Tong University
Royal Devon & Exeter NHS Foundation Trust
Osaka Medical and Pharmaceutical University
University of Science and Technology of China
Institute of Biomedical and Genetic Engineering
University College London
COMSATS University Islamabad
University of California at San Francisco
Baylor College of Medicine
Texas Children's Hospital Houston
Radboud University Nijmegen
University of Southampton
University of California at San Diego
Johns Hopkins University
University of the Punjab
Shaheed Zulfiqar Ali Bhutto Medical University
University of Health Sciences Lahore

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

Original language	English
Pages (from-to)	e1007504-e1007504
Number of pages	0
Journal	PLoS Genetics
Volume	14
Issue number	8
DOIs	https://doi.org/10.1371/journal.pgen.1007504
Publication status	E-pub ahead of print - 29 Aug 2018

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10.1371/journal.pgen.1007504

Cite this

Li, L., Jiao, X., D’Atri, I., Ono, F., Nelson, R., Chan, C. C., Nakaya, N., Ma, Z., Ma, Y., Cai, X., Zhang, L., Lin, S., Hameed, A., Chioza, B. A., Hardy, H., Arno, G., Hull, S., Khan, M. I., Fasham, J., ... Hejtmancik, J. F. (2018). Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genetics, 14(8), e1007504-e1007504. Advance online publication. https://doi.org/10.1371/journal.pgen.1007504

@article{90365ae49c3942029922d768d723d913,

title = "Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa",

author = "Lin Li and Xiaodong Jiao and Ilaria D{\textquoteright}Atri and Fumihito Ono and Ralph Nelson and Chan, \{Chi Chao\} and Naoki Nakaya and Z Ma and Y Ma and Xiaoying Cai and Longhua Zhang and Siying Lin and Abdul Hameed and Chioza, \{Barry A.\} and Holly Hardy and Gavin Arno and Sarah Hull and Khan, \{Muhammad Imran\} and James Fasham and Harlalka, \{Gaurav V.\} and Michel Michaelides and Moore, \{Anthony T.\} and Coban, \{Akdemir ZH\} and Shalini Jhangiani and Lupski, \{James R.\} and Cremers, \{Frans P.M.\} and Raheel Qamar and Ahmed Salman and John Chilton and Jay Self and Radha Ayyagari and Firoz Kabir and Naeem, \{Muhammad Asif\} and Muhammad Ali and Javed Akram and Sieving, \{Paul A.\} and S Riazuddin and Baple, \{Emma L.\} and SA Riazuddin and Crosby, \{Andrew H.\} and Hejtmancik, \{J. Fielding\}",

year = "2018",

month = aug,

day = "29",

doi = "10.1371/journal.pgen.1007504",

language = "English",

volume = "14",

pages = "e1007504--e1007504",

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Li, L, Jiao, X, D’Atri, I, Ono, F, Nelson, R, Chan, CC, Nakaya, N, Ma, Z, Ma, Y, Cai, X, Zhang, L, Lin, S, Hameed, A, Chioza, BA, Hardy, H, Arno, G, Hull, S, Khan, MI, Fasham, J, Harlalka, GV, Michaelides, M, Moore, AT, Coban, AZH, Jhangiani, S, Lupski, JR, Cremers, FPM, Qamar, R, Salman, A, Chilton, J, Self, J, Ayyagari, R, Kabir, F, Naeem, MA, Ali, M, Akram, J, Sieving, PA, Riazuddin, S, Baple, EL, Riazuddin, SA, Crosby, AH & Hejtmancik, JF 2018, 'Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa', PLoS Genetics, vol. 14, no. 8, pp. e1007504-e1007504. https://doi.org/10.1371/journal.pgen.1007504

TY - JOUR

T1 - Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

AU - Li, Lin

AU - Jiao, Xiaodong

AU - D’Atri, Ilaria

AU - Ono, Fumihito

AU - Nelson, Ralph

AU - Chan, Chi Chao

AU - Nakaya, Naoki

AU - Ma, Z

AU - Ma, Y

AU - Cai, Xiaoying

AU - Zhang, Longhua

AU - Lin, Siying

AU - Hameed, Abdul

AU - Chioza, Barry A.

AU - Hardy, Holly

AU - Arno, Gavin

AU - Hull, Sarah

AU - Khan, Muhammad Imran

AU - Fasham, James

AU - Harlalka, Gaurav V.

AU - Michaelides, Michel

AU - Moore, Anthony T.

AU - Coban, Akdemir ZH

AU - Jhangiani, Shalini

AU - Lupski, James R.

AU - Cremers, Frans P.M.

AU - Qamar, Raheel

AU - Salman, Ahmed

AU - Chilton, John

AU - Self, Jay

AU - Ayyagari, Radha

AU - Kabir, Firoz

AU - Naeem, Muhammad Asif

AU - Ali, Muhammad

AU - Akram, Javed

AU - Sieving, Paul A.

AU - Riazuddin, S

AU - Baple, Emma L.

AU - Riazuddin, SA

AU - Crosby, Andrew H.

AU - Hejtmancik, J. Fielding

PY - 2018/8/29

Y1 - 2018/8/29

U2 - 10.1371/journal.pgen.1007504

DO - 10.1371/journal.pgen.1007504

M3 - Article

SN - 1553-7390

VL - 14

SP - e1007504-e1007504

JO - PLoS Genetics

JF - PLoS Genetics

IS - 8

ER -