Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. (Q37320277)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1 (English)

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23 February 2020

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1

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23 February 2020

Marieke De Bruyne

5

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23 February 2020

Caroline Van Cauwenbergh

6

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23 February 2020

Maté Ongenaert

9

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23 February 2020

Elfride De Baere

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23 February 2020

author name string

Anne Laure Todeschini

2

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23 February 2020

Takuro Fujimaki

3

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23 February 2020

Annelot Baert

4

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23 February 2020

Hannah Verdin

7

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23 February 2020

Miriam Bauwens

8

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23 February 2020

Mineo Kondo

10

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Françoise Meire

11

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Akira Murakami

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Reiner A Veitia

13

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23 February 2020

Bart P Leroy

14

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23 February 2020

language of work or name

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1 October 2015

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23 February 2020

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23 February 2020

volume

36

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23 February 2020

issue

12

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23 February 2020

page(s)

1188-1196

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Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

23 February 2020

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Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

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PubMed

https://pubmed.ncbi.nlm.nih.gov/26316326

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22899

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26316326%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference