Molecular characterization of a novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome

S. Samaan; S. Valence; F. Renaldo; C. Maalouf; I. Dorboz; K. Boussaid; M. Elmaleh; G. Rice; O. Boespflug-Tanguy; Y. Crow; D. Rodriguez

Molecular characterization of a novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome

S. Samaan, S. Valence, F. Renaldo, C. Maalouf, I. Dorboz, K. Boussaid, M. Elmaleh, G. Rice, O. Boespflug-Tanguy, Y. Crow, D. Rodriguez

Research output: Contribution to journal › Meeting Abstract › peer-review

Original language	English
Pages (from-to)	249-249
Journal	European Journal of Human Genetics
Volume	27
Publication status	Published - Jul 2019

Cite this

@article{b079d90a1f9140aba10a82dfef5aed99,

title = "Molecular characterization of a novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome",

author = "S. Samaan and S. Valence and F. Renaldo and C. Maalouf and I. Dorboz and K. Boussaid and M. Elmaleh and G. Rice and O. Boespflug-Tanguy and Y. Crow and D. Rodriguez",

year = "2019",

month = jul,

language = "English",

volume = "27",

pages = "249--249",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

}

TY - JOUR

T1 - Molecular characterization of a novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome

AU - Samaan, S.

AU - Valence, S.

AU - Renaldo, F.

AU - Maalouf, C.

AU - Dorboz, I.

AU - Boussaid, K.

AU - Elmaleh, M.

AU - Rice, G.

AU - Boespflug-Tanguy, O.

AU - Crow, Y.

AU - Rodriguez, D.

PY - 2019/7

Y1 - 2019/7

M3 - Meeting Abstract

SN - 1018-4813

VL - 27

SP - 249

EP - 249

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -