PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly (Q28119108)

4 January 2017

title

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly (English)

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Peroxisomal biogenesis factor 6

4 January 2017

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photoreceptor protein

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Peroxisomal biogenesis factor 6

GOA release 2020-03-11

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GOA release 2020-03-11

author

Gudrun Nürnberg

4

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Uwe Wolfrum

13

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Peter Nürnberg

6

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Raoul Heller

2

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Eveline Baumgart-Vogt

14

Eveline Baumgart-Vogt

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Ekram Fateen

Ekram Fateen

9

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Srikanth Karnati

Srikanth Karnati

7

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Daniel C Swan

Daniel Swan

8

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Holger Thiele

12

Holger Thiele

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4 January 2017

Maha S. Zaki

1

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4 January 2017

Michaela Thoenes

3

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4 January 2017

Gabi Stern-Schneider

5

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4 January 2017

Kerstin Nagel-Wolfrum

10

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4 January 2017

Mostafa I. Mostafa

11

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4 January 2017

Hanno J. Bolz

15

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4 January 2017

publication date

1 February 2016

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4 January 2017

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4 January 2017

volume

37

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4 January 2017

issue

2

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4 January 2017

page(s)

170–174

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EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

4 January 2017

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A unified nomenclature for peroxisome biogenesis factors

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Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

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The peroxin Pex6p gene is impaired in peroxisomal biogenesis disorders of complementation group 6.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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7 January 2021

Peroxisomes in mouse and human lung: their involvement in pulmonary lipid metabolism

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7 January 2021

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7 January 2021

Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells

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7 January 2021