MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.

Beate Albrecht; Arjan P de Brouwer; Dirk J Lefeber; Kirsten Cremer; Ingrid Hausser; Nick Rossen; Saskia Wortmann; Ron A Wevers; Uwe Kornak; Eva Morava

doi:10.1002/ajmg.a.33712

MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.

Beate Albrecht, Arjan P de Brouwer, Dirk J Lefeber, Kirsten Cremer, Ingrid Hausser, Nick Rossen, Saskia Wortmann (Co-author), Ron A Wevers, Uwe Kornak, Eva Morava

Research output: Contribution to journal › Letter to the editor › peer-review

8 Citations (Web of Science)

Original language	English
Pages (from-to)	2916-2918
Journal	AM J MED GENET PART A
Volume	152A
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.33712
Publication status	Published - 2010

Keywords

O-GLYCAN BIOSYNTHESIS
MUTATIONS
ATP6V0A2
DEFECTS

Access to Document

10.1002/ajmg.a.33712

Cite this

@article{b30bd204c0da49f6864cc4c550d629d8,

title = "MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.",

keywords = "O-GLYCAN BIOSYNTHESIS, MUTATIONS, ATP6V0A2, DEFECTS",

author = "Beate Albrecht and {de Brouwer}, {Arjan P} and Lefeber, {Dirk J} and Kirsten Cremer and Ingrid Hausser and Nick Rossen and Saskia Wortmann and Wevers, {Ron A} and Uwe Kornak and Eva Morava",

year = "2010",

doi = "10.1002/ajmg.a.33712",

language = "English",

volume = "152A",

pages = "2916--2918",

journal = "AM J MED GENET PART A",

issn = "1552-4825",

number = "11",

}

TY - JOUR

T1 - MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.

AU - Albrecht, Beate

AU - de Brouwer, Arjan P

AU - Lefeber, Dirk J

AU - Cremer, Kirsten

AU - Hausser, Ingrid

AU - Rossen, Nick

AU - Wortmann, Saskia

AU - Wevers, Ron A

AU - Kornak, Uwe

AU - Morava, Eva

PY - 2010

Y1 - 2010

KW - O-GLYCAN BIOSYNTHESIS

KW - MUTATIONS

KW - ATP6V0A2

KW - DEFECTS

U2 - 10.1002/ajmg.a.33712

DO - 10.1002/ajmg.a.33712

M3 - Letter to the editor

C2 - 20954239

SN - 1552-4825

VL - 152A

SP - 2916

EP - 2918

JO - AM J MED GENET PART A

JF - AM J MED GENET PART A

IS - 11

ER -