G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on " A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al.

Shinji Kunishima; Toshihiro Tomii; Kazuko Kudo; Hidehiko Saito

doi:10.1016/j.ejmg.2012.09.001

G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on " A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al.

Shinji Kunishima, Toshihiro Tomii, Kazuko Kudo, Hidehiko Saito

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

Original language	English
Pages (from-to)	763-765
Number of pages	3
Journal	European Journal of Medical Genetics
Volume	55
Issue number	12
DOIs	https://doi.org/10.1016/j.ejmg.2012.09.001
Publication status	Published - 12-2012
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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10.1016/j.ejmg.2012.09.001

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Kunishima, S., Tomii, T., Kudo, K., & Saito, H. (2012). G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on " A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al. European Journal of Medical Genetics, 55(12), 763-765. https://doi.org/10.1016/j.ejmg.2012.09.001

Kunishima, Shinji ; Tomii, Toshihiro ; Kudo, Kazuko ; Saito, Hidehiko. / G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets : Comment on " A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al. In: European Journal of Medical Genetics. 2012 ; Vol. 55, No. 12. pp. 763-765.

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author = "Shinji Kunishima and Toshihiro Tomii and Kazuko Kudo and Hidehiko Saito",

note = "Funding Information: This work was supported by grants from the Ministry of Health, Labour and Welfare for Research on Rare Intractable Diseases in Kidney and Urinary Tract , Japan Society for the Promotion of Science (Grant-in-Aid for Scientific Research), Mitsubishi Pharma Research Foundation, and National Hospital Organization Research Fund (Network Research Grant for Congenital Thrombo- cytopenia).",

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doi = "10.1016/j.ejmg.2012.09.001",

language = "English",

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Kunishima, S, Tomii, T, Kudo, K & Saito, H 2012, 'G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on " A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al.', European Journal of Medical Genetics, vol. 55, no. 12, pp. 763-765. https://doi.org/10.1016/j.ejmg.2012.09.001

G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets : Comment on " A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al. / Kunishima, Shinji; Tomii, Toshihiro; Kudo, Kazuko; Saito, Hidehiko.

In: European Journal of Medical Genetics, Vol. 55, No. 12, 12.2012, p. 763-765.

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

TY - JOUR

T1 - G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets

T2 - Comment on " A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al.

AU - Kunishima, Shinji

AU - Tomii, Toshihiro

AU - Kudo, Kazuko

AU - Saito, Hidehiko

N1 - Funding Information: This work was supported by grants from the Ministry of Health, Labour and Welfare for Research on Rare Intractable Diseases in Kidney and Urinary Tract , Japan Society for the Promotion of Science (Grant-in-Aid for Scientific Research), Mitsubishi Pharma Research Foundation, and National Hospital Organization Research Fund (Network Research Grant for Congenital Thrombo- cytopenia).

PY - 2012/12

Y1 - 2012/12

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U2 - 10.1016/j.ejmg.2012.09.001

DO - 10.1016/j.ejmg.2012.09.001

M3 - Letter

C2 - 22982478

AN - SCOPUS:84869876048

VL - 55

SP - 763

EP - 765

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 12

ER -

Kunishima S, Tomii T, Kudo K, Saito H. G to T transversion at the first nucleotide of exon 26 of the MYH9 gene results in a novel missense mutation and abnormal splicing in platelets: Comment on " A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defecton" by Vettore et al. European Journal of Medical Genetics. 2012 Dec;55(12):763-765. https://doi.org/10.1016/j.ejmg.2012.09.001

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