Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

K Nakabayashi; D Amann; Y Ren; U Saarialho-Kere; N Avidan; S Gentles; JR MacDonald; EG Puffenberger; AM Christiano; A Martinez-Mir; JC Salas-Alanis; R Rizzo; E Vamos; Anja Raams; C Les; E Seboun; Koos Jaspers; JS Beckmann; CE Jackson; SW Scherer

doi:10.1086/428141

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

K Nakabayashi, D Amann, Y Ren, U Saarialho-Kere, N Avidan, S Gentles, JR MacDonald, EG Puffenberger, AM Christiano, A Martinez-Mir, JC Salas-Alanis, R Rizzo, E Vamos, Anja Raams, C Les, E Seboun, Koos Jaspers, JS Beckmann, CE Jackson, SW Scherer

Molecular Genetics

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

69 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	510-516
Number of pages	7
Journal	American Journal of Human Genetics
Volume	76
Issue number	3
DOIs	https://doi.org/10.1086/428141
Publication status	Published - 2005

Research programs

EMC MGC-01-12-03

Access to Document

10.1086/428141

http://hdl.handle.net/1765/60401

Cite this

Nakabayashi, K., Amann, D., Ren, Y., Saarialho-Kere, U., Avidan, N., Gentles, S., MacDonald, JR., Puffenberger, EG., Christiano, AM., Martinez-Mir, A., Salas-Alanis, JC., Rizzo, R., Vamos, E., Raams, A., Les, C., Seboun, E., Jaspers, K., Beckmann, JS., Jackson, CE., & Scherer, SW. (2005). Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. American Journal of Human Genetics, 76(3), 510-516. https://doi.org/10.1086/428141

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title = "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy",

author = "K Nakabayashi and D Amann and Y Ren and U Saarialho-Kere and N Avidan and S Gentles and JR MacDonald and EG Puffenberger and AM Christiano and A Martinez-Mir and JC Salas-Alanis and R Rizzo and E Vamos and Anja Raams and C Les and E Seboun and Koos Jaspers and JS Beckmann and CE Jackson and SW Scherer",

year = "2005",

doi = "10.1086/428141",

language = "Undefined/Unknown",

volume = "76",

pages = "510--516",

journal = "American Journal of Human Genetics",

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Nakabayashi, K, Amann, D, Ren, Y, Saarialho-Kere, U, Avidan, N, Gentles, S, MacDonald, JR, Puffenberger, EG, Christiano, AM, Martinez-Mir, A, Salas-Alanis, JC, Rizzo, R, Vamos, E, Raams, A, Les, C, Seboun, E, Jaspers, K, Beckmann, JS, Jackson, CE & Scherer, SW 2005, 'Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy', American Journal of Human Genetics, vol. 76, no. 3, pp. 510-516. https://doi.org/10.1086/428141

TY - JOUR

T1 - Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

AU - Nakabayashi, K

AU - Amann, D

AU - Ren, Y

AU - Saarialho-Kere, U

AU - Avidan, N

AU - Gentles, S

AU - MacDonald, JR

AU - Puffenberger, EG

AU - Christiano, AM

AU - Martinez-Mir, A

AU - Salas-Alanis, JC

AU - Rizzo, R

AU - Vamos, E

AU - Raams, Anja

AU - Les, C

AU - Seboun, E

AU - Jaspers, Koos

AU - Beckmann, JS

AU - Jackson, CE

AU - Scherer, SW

PY - 2005

Y1 - 2005

U2 - 10.1086/428141

DO - 10.1086/428141

M3 - Article

SN - 0002-9297

VL - 76

SP - 510

EP - 516

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 3

ER -