Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Kaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo

dc.contributor.author	Mazzola, Pascale
dc.contributor.author	Zuleger, Theresia
dc.contributor.author	Poths, Karin
dc.contributor.author	De Angeli, Pietro
dc.contributor.author	Kohl, Susanne
dc.contributor.author	Haack, Tobias
dc.contributor.author	Kühlewein, Laura
dc.date.accessioned	2025-11-12T14:53:21Z
dc.date.available	2025-11-12T14:53:21Z
dc.date.issued	2025
dc.identifier.issn	0002-9297
dc.identifier.uri	http://hdl.handle.net/10900/172075
dc.language.iso	en	de_DE
dc.publisher	Cambridge : Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2025.02.015	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20250630000000_01010
utue.personen.roh	Kaminska, Karolina
utue.personen.roh	Cancellieri, Francesca
utue.personen.roh	Quinodoz, Mathieu
utue.personen.roh	Moye, Abigail R.
utue.personen.roh	Bauwens, Miriam
utue.personen.roh	Lin, Siying
utue.personen.roh	Janeschitz-Kriegl, Lucas
utue.personen.roh	Hayman, Tamar
utue.personen.roh	Barberan-Martinez, Pilar
utue.personen.roh	Schlaeger, Regina
utue.personen.roh	van den Broeck, Filip
utue.personen.roh	Fernandez, Almudena Avila
utue.personen.roh	Fernandez-Caballero, Lidia
utue.personen.roh	Perea-Romero, Irene
utue.personen.roh	Garcia-Garcia, Gema
utue.personen.roh	Salom, David
utue.personen.roh	Mazzola, Pascale
utue.personen.roh	Zuleger, Theresia
utue.personen.roh	Poths, Karin
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Jacob, Julie
utue.personen.roh	Vermeer, Sascha
utue.personen.roh	Terbeek, Frederique
utue.personen.roh	Feltgen, Nicolas
utue.personen.roh	Moulin, Alexandre P.
utue.personen.roh	Koutroumanou, Louisa
utue.personen.roh	Papadakis, George
utue.personen.roh	Browning, Andrew C.
utue.personen.roh	Madhusudhan, Savita
utue.personen.roh	Granse, Lotta
utue.personen.roh	Banin, Eyal
utue.personen.roh	Sousa, Ana Berta
utue.personen.roh	Santos, Luisa Coutinho
utue.personen.roh	Kuehlewein, Laura
utue.personen.roh	De Angeli, Pietro
utue.personen.roh	Leroy, Bart P.
utue.personen.roh	Mahroo, Omar A.
utue.personen.roh	Sedgwick, Fay
utue.personen.roh	Eden, James
utue.personen.roh	Pfau, Maximilian
utue.personen.roh	Andreasson, Sten
utue.personen.roh	Scholl, Hendrik P. N.
utue.personen.roh	Ayuso, Carmen
utue.personen.roh	Millan, Jose M.
utue.personen.roh	Sharon, Dror
utue.personen.roh	Tsilimbaris, Miltiadis K.
utue.personen.roh	Vaclavik, Veronika
utue.personen.roh	Tran, Hoai, V
utue.personen.roh	Ben-Yosef, Tamar
utue.personen.roh	De Baere, Elfride
utue.personen.roh	Webster, Andrew R.
utue.personen.roh	Arno, Gavin
utue.personen.roh	Sergouniotis, Panagiotis I.
utue.personen.roh	Kohl, Susanne
utue.personen.roh	Santos, Cristina
utue.personen.roh	Rivolta, Carlo
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	4	de_DE
dcterms.isPartOf.ZS-Volume	112	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE