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

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

10.7554/eLife.32451

محفوظ في:

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون:	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
مؤلفون آخرون:	MEDICINE
التنسيق:	مقال
منشور في:	2020
الموضوعات:	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
الوصول للمادة أونلاين:	https://scholarbank.nus.edu.sg/handle/10635/177855
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!
المؤسسة:	National University of Singapore

الانترنت

https://scholarbank.nus.edu.sg/handle/10635/177855