First description of an unusual novel double mutation in MECP 2 co‐occurring with the m.827A>G mutation in the MT‐RNR1 gene associated with angelman‐like syndrome-Reference-Cited by-同舟云学术

First description of an unusual novel double mutation in MECP 2 co‐occurring with the m.827A>G mutation in the MT‐RNR1 gene associated with angelman‐like syndrome

Published:2019-10-21 Issue:1 Volume:79 Page:37-44
ISSN:0736-5748
Container-title:International Journal of Developmental Neuroscience
language:en
Short-container-title:Int. j. dev. neurosci.

Author:

Kharrat Marwa¹,Triki Chahnez²,Maalej Marwa¹,Ncir Sihem²,Ammar Marwa¹,Kammoun Fatma²,Fakhfakh Faiza¹

Affiliation:

1. Laboratory of Molecular and Functional GeneticsFaculty of Science of SfaxUniversity of SfaxSfaxTunisia

2. Unit of Pediatric Neurology research (UR12ES 16) C.H.U. HediChakerSfaxTunisia

Funder

Ministry of Higher Education and the Scientific Research in Tunisia

Publisher

Wiley

Subject

Developmental Biology,Developmental Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1016/j.ijdevneu.2019.10.002

Reference44 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Allen R.C.;Am. J. Hum. Genet.,1992

2. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

3. Investigating genotype-phenotype relationships in Rett syndrome using an international data set

4. PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

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