Hypomorphic mutations in the gene encoding a key fanconi anemia protein, fancd2, sustain a significant group of fa-d2 patients with severe phenotype

R Kalb; K Neveling; H Hoehn; H Schneider; Y Linka; SD Batish; C Hunt; M Berwick; E Callen; J Surralles; JA Casado; J Bueren; A Dasi; J Soulier; E Gluckman; C.M. Zwaan; RML (Rosalina) van Spaendonk; G Pals; JP (Johan) de Winter; H Joenje; M Grompe; AD Auerbach; H Hanenberg; D Schindler

doi:10.1086/517616

Hypomorphic mutations in the gene encoding a key fanconi anemia protein, fancd2, sustain a significant group of fa-d2 patients with severe phenotype

R Kalb, K Neveling, H Hoehn, H Schneider, Y Linka, SD Batish, C Hunt, M Berwick, E Callen, J Surralles, JA Casado, J Bueren, A Dasi, J Soulier, E Gluckman, C.M. Zwaan, RML (Rosalina) van Spaendonk, G Pals, JP (Johan) de Winter, H JoenjeM Grompe, AD Auerbach, H Hanenberg, D Schindler

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

108 Citations (Scopus)

Original language	English
Pages (from-to)	895-910
Number of pages	16
Journal	American Journal of Human Genetics
Volume	80
DOIs	https://doi.org/10.1086/517616
Publication status	Published - 2007

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EMC MM-02-54-03

Access to Document

10.1086/517616

http://hdl.handle.net/1765/35444

Cite this

Kalb, R., Neveling, K., Hoehn, H., Schneider, H., Linka, Y., Batish, SD., Hunt, C., Berwick, M., Callen, E., Surralles, J., Casado, JA., Bueren, J., Dasi, A., Soulier, J., Gluckman, E., Zwaan, C. M., van Spaendonk, RML., Pals, G., de Winter, JP., ... Schindler, D. (2007). Hypomorphic mutations in the gene encoding a key fanconi anemia protein, fancd2, sustain a significant group of fa-d2 patients with severe phenotype. American Journal of Human Genetics, 80, 895-910. https://doi.org/10.1086/517616

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title = "Hypomorphic mutations in the gene encoding a key fanconi anemia protein, fancd2, sustain a significant group of fa-d2 patients with severe phenotype",

author = "R Kalb and K Neveling and H Hoehn and H Schneider and Y Linka and SD Batish and C Hunt and M Berwick and E Callen and J Surralles and JA Casado and J Bueren and A Dasi and J Soulier and E Gluckman and C.M. Zwaan and {van Spaendonk}, {RML (Rosalina)} and G Pals and {de Winter}, {JP (Johan)} and H Joenje and M Grompe and AD Auerbach and H Hanenberg and D Schindler",

year = "2007",

doi = "10.1086/517616",

language = "English",

volume = "80",

pages = "895--910",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

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Kalb, R, Neveling, K, Hoehn, H, Schneider, H, Linka, Y, Batish, SD, Hunt, C, Berwick, M, Callen, E, Surralles, J, Casado, JA, Bueren, J, Dasi, A, Soulier, J, Gluckman, E, Zwaan, CM, van Spaendonk, RML, Pals, G, de Winter, JP, Joenje, H, Grompe, M, Auerbach, AD, Hanenberg, H & Schindler, D 2007, 'Hypomorphic mutations in the gene encoding a key fanconi anemia protein, fancd2, sustain a significant group of fa-d2 patients with severe phenotype', American Journal of Human Genetics, vol. 80, pp. 895-910. https://doi.org/10.1086/517616

TY - JOUR

T1 - Hypomorphic mutations in the gene encoding a key fanconi anemia protein, fancd2, sustain a significant group of fa-d2 patients with severe phenotype

AU - Kalb, R

AU - Neveling, K

AU - Hoehn, H

AU - Schneider, H

AU - Linka, Y

AU - Batish, SD

AU - Hunt, C

AU - Berwick, M

AU - Callen, E

AU - Surralles, J

AU - Casado, JA

AU - Bueren, J

AU - Dasi, A

AU - Soulier, J

AU - Gluckman, E

AU - Zwaan, C.M.

AU - van Spaendonk, RML (Rosalina)

AU - Pals, G

AU - de Winter, JP (Johan)

AU - Joenje, H

AU - Grompe, M

AU - Auerbach, AD

AU - Hanenberg, H

AU - Schindler, D

PY - 2007

Y1 - 2007

U2 - 10.1086/517616

DO - 10.1086/517616

M3 - Article

SN - 0002-9297

VL - 80

SP - 895

EP - 910

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -