PMC Links for Protein (Select 205277471) - PMC - NCBI

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Items: 4

Select item 58915011.

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

Sebastien P. F. JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven, Tony Cox, Kristof Deben, Katrien Ketelslagers, Tom Crins, Wim Wuyts

Eur J Hum Genet. 2018 Apr; 26(4): 587–591. Published online 2018 Feb 15. doi: 10.1038/s41431-017-0066-2

PMCID:: PMC5891501

Abstract Article PDF–500K

Select item 57899082.

Impaired lymphoid extracellular matrix impedes antibacterial immunity in epidermolysis bullosa

Alexander Nyström, Olivier Bornert, Tobias Kühl, Christine Gretzmeier, Kerstin Thriene, Jörn Dengjel, Andrea Pfister-Wartha, Dimitra Kiritsi, Leena Bruckner-Tuderman

Proc Natl Acad Sci U S A. 2018 Jan 23; 115(4): E705–E714. Published online 2018 Jan 5. doi: 10.1073/pnas.1709111115

PMCID:: PMC5789908

Abstract Article PDF–2.1M

Select item 52431273.

Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9

Qi Wang, Peipei Fei, Hongbo Gu, Yanmei Zhang, Xiaomei Ke, Yuhe Liu

PLoS One. 2017; 12(1): e0170011. Published online 2017 Jan 18. doi: 10.1371/journal.pone.0170011

PMCID:: PMC5243127

Abstract Article PDF–1.3M

Select item 52230384.

Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH

Xiaodong Gu, Wenling Su, Mingliang Tang, Luo Guo, Liping Zhao, Huawei Li

Neural Plast. 2016; 2016: 5310192. Published online 2016 Dec 27. doi: 10.1155/2016/5310192

PMCID:: PMC5223038

Abstract Article PDF–668K

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