Bi-Allelic Variants in Three Genes Encoding Distinct Subunits of the Vesicular Ap-5 Complex Cause Hereditary Macular Dystrophy

AuthID
P-018-FAS
56
Author(s)
Kaminska, K
·
Cancellieri, F
·
Quinodoz, M
·
Moye, AR
·
Bauwens, M
·
Lin, SY
·
Janeschitz-Kriegl, L
·
Hayman, T
·
Barberán-Martínez, P
·
Schlaeger, R
·
[+21]·
[+15]·
Tran, H
·
Ben-Yosef, T
·
De Baere, E
·
Webster, AR
·
Arno, G
·
Sergouniotis, PI
·
Kohl, S
·
Santos, C
·
Tipo de Documento
Article
Year published
2025
Publicado
in AMERICAN JOURNAL OF HUMAN GENETICS, ISSN: 0002-9297
Volume: 112, Número: 4, Páginas: 808-828 (22)
Indexing
Publication Identifiers
Pubmed: 40081374
SCOPUS: 2-s2.0-105000036176
Wos: WOS:001464631400001
Source Identifiers
ISSN: 0002-9297
Export Publication Metadata
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Name Order Nome   Name Order Nome   Name Order Nome
1 Kaminska, K;   2 Cancellieri, F;   3 Quinodoz, M;
4 Moye, AR;   5 Bauwens, M;   6 Lin, SY;
7 Janeschitz-Kriegl, L;   8 Hayman, T;   9 Barberán-Martínez, P;
10 Schlaeger, R;   11 van den Broeck, F;   12 Fernández, AA;
13 Fernández-Caballero,L;   14 Perea-Romero, I;   15 García-García, G;
16 Salom, D;   17 Mazzola, P;   18 Zuleger, T;
19 Poths, K;   20 Haack, TB;   21 Jacob, J;
22 Vermeer, S;   23 Terbeek, F;   24 Feltgen, N;
25 Moulin, AP;   26 Koutroumanou, L;   27 Papadakis, G;
28 Browning, AC;   29 Madhusudhan, S;   30 Gränse, L;
31 Banin, E;   32 Sousa, AB;   33 Santos, LC;
34 Kuehlewein, L;   35 De Angeli, P;   36 Leroy, BP;
37 Mahroo, OA;   38 Sedgwick, F;   39 Eden, J;
40 Pfau, M;   41 Andréasson, S;   42 Scholl, HPN;
43 Ayuso, C;   44 Millán, JM;   45 Sharon, D;
46 Tsilimbaris, MK;   47 Vaclavik, V;   48 Tran, H;
49 Ben-Yosef, T;   50 De Baere, E;   51 Webster, AR;
52 Arno, G;   53 Sergouniotis, PI;   54 Kohl, S;
55 Santos, C;   56 Rivolta, C;