Autosomal dominant gain-of-function mutations in LCP1 cause syndromic neutropenia and immunodeficiency

NIAID Data Ecosystem2026-05-02 收录

遗传性疾病

鼠转录组

数据链接：

https://www.ncbi.nlm.nih.gov/sra/SRP577409 数据链接链接失效反馈

官方服务：

资源简介：

RNAseq rawdata of neutrophil from LCP1 Knock-In mouse

创建时间：

2025-04-11

肾凝溶胶蛋白淀粉样变性是蛋白尿的罕见病因：病例报告和文献综述

遗传性疾病

肾病病理学

我们报告了一种伴有肾脏受累的 AGel 淀粉样变性的新突变。基因检测显示 GSN 基因存在杂合错义突变（NM_198252.3;约487G>A;p.Asp163Asn）。该病例凸显了肾活检、质谱分析和基因检测在确定明确诊断中的重要性。它扩展了已知的 GSN 基因突变谱，并进一步支持 AGel 淀粉样变性表型的异质性。

DataCite Commons2025-10-19 更新180

Supplementary Material for: Ophthalmic symptoms of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A report of three cases

遗传性疾病

眼科诊断

Introduction LCHAD deficiency, typically inherited as a recessive trait, is a genetic condition predominantly observed in Central and Eastern Europe, with birth prevalence in Poland amounting to 1/118

DataCite Commons2024-03-16 更新70

ERCC8

基因研究

遗传性疾病

This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this

rgd.mcw.edu70

Data set 2 - IEI Exome SNP Discovery

遗传性疾病

外显子测序

Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The

Figshare2023-05-08 更新80

Hereditary Spastic Paraparesis. Homo sapiens

遗传性疾病

基因表达谱分析

The goal of this project is to study differentially expressed genes in patients affected by Hereditary Spastic Paraplegia (HSP) linked to mutations of the gene encoding spastin an ubiquitously express

NIAID Data Ecosystem70

Autosomal dominant gain-of-function mutations in LCP1 cause syndromic neutropenia and immunodeficiency

资源简介：

相关数据集