Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

H. Smith; R.P. Galmes; E. Gogolina; A. Straatman-Iwanowska; K. Reay; B. Banushi; C.K. Bruce; A. Cullinane; R. Romero; R. Chang; O. Ackermann; C. Baumann; H. Cangul; F. Cakmak Celik; C. Aygun; R. Coward; C. Dionisi-Vici; B. Sibbles; C. Inward; C.A. Kim; J. Klumperman; A.S. Knisely; S.P. Watson; P. Gissen

Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

Translated title of the contribution: Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

H. Smith
, R.P. Galmes
, E. Gogolina
, A. Straatman-Iwanowska
, K. Reay
, B. Banushi
, C.K. Bruce
, A. Cullinane
, R. Romero
, R. Chang
, O. Ackermann
, C. Baumann
, H. Cangul
, F. Cakmak Celik
, C. Aygun
, R. Coward
, C. Dionisi-Vici
, B. Sibbles
, C. Inward
, C.A. Kim

J. Klumperman, A.S. Knisely, S.P. Watson, P. Gissen

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Original language	Undefined/Unknown
Pages (from-to)	1656-1664
Number of pages	9
Journal	Human Mutation
Volume	33
Issue number	12
Publication status	Published - 2012

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed/22753090

Cite this

Smith, H., Galmes, R. P., Gogolina, E., Straatman-Iwanowska, A., Reay, K., Banushi, B., Bruce, C. K., Cullinane, A., Romero, R., Chang, R., Ackermann, O., Baumann, C., Cangul, H., Cakmak Celik, F., Aygun, C., Coward, R., Dionisi-Vici, C., Sibbles, B., Inward, C., ... Gissen, P. (2012). Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome. Human Mutation, 33(12), 1656-1664. http://www.ncbi.nlm.nih.gov/pubmed/22753090

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author = "H. Smith and R.P. Galmes and E. Gogolina and A. Straatman-Iwanowska and K. Reay and B. Banushi and C.K. Bruce and A. Cullinane and R. Romero and R. Chang and O. Ackermann and C. Baumann and H. Cangul and \{Cakmak Celik\}, F. and C. Aygun and R. Coward and C. Dionisi-Vici and B. Sibbles and C. Inward and C.A. Kim and J. Klumperman and A.S. Knisely and S.P. Watson and P. Gissen",

year = "2012",

language = "Undefined/Unknown",

volume = "33",

pages = "1656--1664",

journal = "Human Mutation",

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Smith, H, Galmes, RP, Gogolina, E, Straatman-Iwanowska, A, Reay, K, Banushi, B, Bruce, CK, Cullinane, A, Romero, R, Chang, R, Ackermann, O, Baumann, C, Cangul, H, Cakmak Celik, F, Aygun, C, Coward, R, Dionisi-Vici, C, Sibbles, B, Inward, C, Kim, CA, Klumperman, J, Knisely, AS, Watson, SP & Gissen, P 2012, 'Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.', Human Mutation, vol. 33, no. 12, pp. 1656-1664. <http://www.ncbi.nlm.nih.gov/pubmed/22753090>

TY - JOUR

T1 - Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

AU - Smith, H.

AU - Galmes, R.P.

AU - Gogolina, E.

AU - Straatman-Iwanowska, A.

AU - Reay, K.

AU - Banushi, B.

AU - Bruce, C.K.

AU - Cullinane, A.

AU - Romero, R.

AU - Chang, R.

AU - Ackermann, O.

AU - Baumann, C.

AU - Cangul, H.

AU - Cakmak Celik, F.

AU - Aygun, C.

AU - Coward, R.

AU - Dionisi-Vici, C.

AU - Sibbles, B.

AU - Inward, C.

AU - Kim, C.A.

AU - Klumperman, J.

AU - Knisely, A.S.

AU - Watson, S.P.

AU - Gissen, P.

PY - 2012

Y1 - 2012

M3 - Article

SN - 1059-7794

VL - 33

SP - 1656

EP - 1664

JO - Human Mutation

JF - Human Mutation

IS - 12

ER -