TY  - GEN
AU  - Hucthagowder,Vishwanathan
AU  - Morava,Eva
AU  - Kornak,Uwe
AU  - Lefeber,Dirk J
AU  - Fischer,Björn
AU  - Dimopoulou,Aikaterini
AU  - Aldinger,Annika
AU  - Choi,Jiwon
AU  - Davis,Elaine C
AU  - Abuelo,Dianne N
AU  - Adamowicz,Maciej
AU  - Al-Aama,Jumana
AU  - Basel-Vanagaite,Lina
AU  - Fernandez,Bridget
AU  - Greally,Marie T
AU  - Gillessen-Kaesbach,Gabriele
AU  - Kayserili,Hulya
AU  - Lemyre,Emmanuelle
AU  - Tekin,Mustafa
AU  - Türkmen,Seval
AU  - Tuysuz,Beyhan
AU  - Yüksel-Konuk,Berrin
AU  - Mundlos,Stefan
AU  - Van Maldergem,Lionel
AU  - Wevers,Ron A
AU  - Urban,Zsolt
TI  - Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival
SN  - 1460-2083
PY  - 2009///0708
KW  - Amino Acid Sequence
KW  - Apoptosis
KW  - Cell Survival
KW  - Cells, Cultured
KW  - Child, Preschool
KW  - Cohort Studies
KW  - Cutis Laxa
KW  - genetics
KW  - Cytoplasmic Vesicles
KW  - metabolism
KW  - Female
KW  - Fibroblasts
KW  - cytology
KW  - Golgi Apparatus
KW  - Humans
KW  - Infant
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Protein Transport
KW  - Proton-Translocating ATPases
KW  - chemistry
KW  - Tropoelastin
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddp148
ER  -