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Updated: Jul 6, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

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发性动脉:FGF14重复扩张 (SCA27B) 的一个特征特征

Cendrine Foucard1, Marie Belley1, Aude Sangare1

  • 1From the Assistance Publique-Hôpitaux de Paris (C.F., M.B., A.S., E.R.), DMU Neurosciences, Hôpital Pitié-Salpêtrière; Sorbonne Université (C.F., A.S., E.R.); Inserm U1127 (A.S., E.R.), CNRS UMR 7225, UM 75, Institut du Cerveau, Paris; Laboratoire de Génétique Médicale (C.B.), Hôpitaux de Brabois - CHRU de Nancy; INSERM-U1256 NGERE (C.B., M.R.), Université de Lorraine; Service de Neurologie (M.R.), CHRU de Nancy; and Service de Génétique Clinique (M.R.), CHRU Nancy, France.

Neurology. Genetics
|January 3, 2024
PubMed
概括

在FGF14基因的遗传扩张导致晚期发病的阳性动力衰竭和脱节症. 乙胺治疗显著改善了受影响个体的症状,突出了这种罕见的神经疾病的潜在治疗方法.

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