A homozygous loss-of-function camk2a mutation causes growth delay, frequent seizures and severe intellectual disability

10.7554/eLife.32451

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書目詳細資料
Main Authors:	Chia, P.H, Zhong, F.L, Niwa, S, Bonnard, C, Utami, K.H, Zeng, R, Lee, H, Eskin, A, Nelson, S.F, Xie, W.H, Al-Tawalbeh, S, El-Khateeb, M, Shboul, M, Pouladi, M.A, Al-Raqad, M, Reversade, B
其他作者:	MEDICINE
格式:	Article
出版:	2020
主題:	calcium calmodulin dependent protein kinase II histone protein protein unc 43 tyrosine unclassified drug CAMK2A protein, human animal experiment animal model Article Caenorhabditis elegans case report chromosome 5q clinical article consanguineous marriage controlled study convulsion developmental delay firing rate germline mutation growth disorder homozygote human human cell induced pluripotent stem cell intellectual impairment loss of function mutation missense mutation myoclonus seizure nonhuman protein function protein localization seizure synapse whole exome sequencing chromosome 5 consanguinity developmental disorder DNA sequence family health genetic linkage genetics Jordan Calcium-Calmodulin-Dependent Protein Kinase Type 2 Chromosomes, Human, Pair 5 Consanguinity Developmental Disabilities Family Health Genetic Linkage Homozygote Humans Intellectual Disability Loss of Function Mutation Mutation, Missense Seizures Sequence Analysis, DNA
在線閱讀:	https://scholarbank.nus.edu.sg/handle/10635/177855
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