Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

Hans Christian Hennies; Uwe Kornak; Haikuo Zhang; Johannes Egerer; Xin Zhang; Wenke Seifert; Jirko Kühnisch; Birgit Budde; Marc Nätebus; Francesco Brancati; William R. Wilcox; Dietmar Müller; Paige B. Kaplan; Anna Rajab; Giuseppe Zampino; Valentina Fodale; Bruno Dallapiccola; William Newman; Kay Metcalfe; Jill Clayton-Smith; May Tassabehji; Beat Steinmann; Francis A. Barr; Peter Nürnberg; Peter Wieacker; Stefan Mundlos

doi:10.1038/ng.252

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

Hans Christian Hennies, Uwe Kornak, Haikuo Zhang, Johannes Egerer, Xin Zhang, Wenke Seifert, Jirko Kühnisch, Birgit Budde, Marc Nätebus, Francesco Brancati, William R. Wilcox, Dietmar Müller, Paige B. Kaplan, Anna Rajab, Giuseppe Zampino, Valentina Fodale, Bruno Dallapiccola, William Newman, Kay Metcalfe, Jill Clayton-SmithMay Tassabehji, Beat Steinmann, Francis A. Barr, Peter Nürnberg, Peter Wieacker, Stefan Mundlos

Risultato della ricerca: Contributo in rivista › Articolo in rivista

110 Citazioni (Scopus)

Lingua originale	English
pagine (da-a)	1410-1412
Numero di pagine	3
Rivista	Nature Genetics
DOI	https://doi.org/10.1038/ng.252
Stato di pubblicazione	Pubblicato - 2008

Keywords

Rab-6
SCYL1BP1
gerodermia osteodysplactica

Accesso al documento

10.1038/ng.252

Altri file e collegamenti

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Cita questo

Hennies, H. C., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., Kühnisch, J., Budde, B., Nätebus, M., Brancati, F., Wilcox, W. R., Müller, D., Kaplan, P. B., Rajab, A., Zampino, G., Fodale, V., Dallapiccola, B., Newman, W., Metcalfe, K., ... Mundlos, S. (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 1410-1412. https://doi.org/10.1038/ng.252

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title = "Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.",

keywords = "Rab-6, SCYL1BP1, gerodermia osteodysplactica, Rab-6, SCYL1BP1, gerodermia osteodysplactica",

author = "Hennies, {Hans Christian} and Uwe Kornak and Haikuo Zhang and Johannes Egerer and Xin Zhang and Wenke Seifert and Jirko K{\"u}hnisch and Birgit Budde and Marc N{\"a}tebus and Francesco Brancati and Wilcox, {William R.} and Dietmar M{\"u}ller and Kaplan, {Paige B.} and Anna Rajab and Giuseppe Zampino and Valentina Fodale and Bruno Dallapiccola and William Newman and Kay Metcalfe and Jill Clayton-Smith and May Tassabehji and Beat Steinmann and Barr, {Francis A.} and Peter N{\"u}rnberg and Peter Wieacker and Stefan Mundlos",

year = "2008",

doi = "10.1038/ng.252",

language = "English",

pages = "1410--1412",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

}

Hennies, HC, Kornak, U, Zhang, H, Egerer, J, Zhang, X, Seifert, W, Kühnisch, J, Budde, B, Nätebus, M, Brancati, F, Wilcox, WR, Müller, D, Kaplan, PB, Rajab, A, Zampino, G, Fodale, V, Dallapiccola, B, Newman, W, Metcalfe, K, Clayton-Smith, J, Tassabehji, M, Steinmann, B, Barr, FA, Nürnberg, P, Wieacker, P & Mundlos, S 2008, 'Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.', Nature Genetics, pagg. 1410-1412. https://doi.org/10.1038/ng.252

TY - JOUR

T1 - Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

AU - Hennies, Hans Christian

AU - Kornak, Uwe

AU - Zhang, Haikuo

AU - Egerer, Johannes

AU - Zhang, Xin

AU - Seifert, Wenke

AU - Kühnisch, Jirko

AU - Budde, Birgit

AU - Nätebus, Marc

AU - Brancati, Francesco

AU - Wilcox, William R.

AU - Müller, Dietmar

AU - Kaplan, Paige B.

AU - Rajab, Anna

AU - Zampino, Giuseppe

AU - Fodale, Valentina

AU - Dallapiccola, Bruno

AU - Newman, William

AU - Metcalfe, Kay

AU - Clayton-Smith, Jill

AU - Tassabehji, May

AU - Steinmann, Beat

AU - Barr, Francis A.

AU - Nürnberg, Peter

AU - Wieacker, Peter

AU - Mundlos, Stefan

PY - 2008

Y1 - 2008

KW - Rab-6

KW - SCYL1BP1

KW - gerodermia osteodysplactica

KW - Rab-6

KW - SCYL1BP1

KW - gerodermia osteodysplactica

UR - http://hdl.handle.net/10807/31455

U2 - 10.1038/ng.252

DO - 10.1038/ng.252

M3 - Article

SN - 1061-4036

SP - 1410

EP - 1412

JO - Nature Genetics

JF - Nature Genetics

ER -