Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss

Y. Tsurusaki; R. Yonezawa; M. Furuya; G. Nishimura; R. K. Pooh; M. Nakashima; H. Saitsu; N. Miyake; S. Saito; N. Matsumoto

doi:10.1111/cge.12215

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss

Y. Tsurusaki, R. Yonezawa, M. Furuya, G. Nishimura, R. K. Pooh, M. Nakashima, H. Saitsu, N. Miyake, S. Saito, N. Matsumoto^*

^*Corresponding author for this work

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

23 Scopus citations

Original language	English
Pages (from-to)	592-594
Number of pages	3
Journal	Clinical Genetics
Volume	85
Issue number	6
DOIs	https://doi.org/10.1111/cge.12215
State	Published - 2014/06

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/cge.12215

Cite this

@article{180aa66a1b2f44f99e0435ade6345027,

title = "Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss",

author = "Y. Tsurusaki and R. Yonezawa and M. Furuya and G. Nishimura and Pooh, {R. K.} and M. Nakashima and H. Saitsu and N. Miyake and S. Saito and N. Matsumoto",

year = "2014",

month = jun,

doi = "10.1111/cge.12215",

language = "英語",

volume = "85",

pages = "592--594",

journal = "Clinical Genetics",

issn = "0009-9163",

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TY - JOUR

T1 - Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss

AU - Tsurusaki, Y.

AU - Yonezawa, R.

AU - Furuya, M.

AU - Nishimura, G.

AU - Pooh, R. K.

AU - Nakashima, M.

AU - Saitsu, H.

AU - Miyake, N.

AU - Saito, S.

AU - Matsumoto, N.

PY - 2014/6

Y1 - 2014/6

UR - http://www.scopus.com/inward/record.url?scp=84899484355&partnerID=8YFLogxK

U2 - 10.1111/cge.12215

DO - 10.1111/cge.12215

M3 - Letter

C2 - 23826986

AN - SCOPUS:84899484355

SN - 0009-9163

VL - 85

SP - 592

EP - 594

JO - Clinical Genetics

JF - Clinical Genetics

IS - 6

ER -