A mutation in the c-Fos gene associated with congenital generalized lipodystrophy

ChEBI2013-08-07 更新2026-07-21 收录

全身性脂肪营养不良

基因突变致病性分析

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https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-39825 数据链接链接失效反馈

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A mutation in the c-Fos gene associated with congenital generalized lipodystrophy

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2013-08-07

A Novel PLOD1 Gene Mutation causing Kyphoscoliotic Ehlers-Danlos Syndrome in Chinese patient

遗传性结缔组织病

基因突变致病性分析

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobi

Mendeley Data2024-03-27 更新120

A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2

遗传性噬血细胞综合征

基因突变致病性分析

A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2

Figshare2020-08-24 更新40

Supplementary Material for: Acquired Generalized Lipodystrophy with Extensive Autoimmune Involvement: A Case Report and Review of the Literature

全身性脂肪营养不良

自身免疫疾病

Introduction: Acquired generalized lipodystrophy (AGL) is a rare condition characterized by body fat loss and, usually, metabolic syndrome with or without associated autoimmune diseases. Clinical phen

DataCite Commons2025-07-31 更新40

MOESM1 of Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type

全身性脂肪营养不良

分子生物学数据

Additional file 1: Table S1. Primers sequence.

DataCite Commons2020-08-30 更新50

Table_2_Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients.DOCX

遗传性乳腺癌

基因突变致病性分析

BackgroundDeleterious mutations on BRCA1/2 genes are known to confer high risk of developing breast and ovarian cancers. The identification of these mutations not only helped in selecting high risk in

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A mutation in the c-Fos gene associated with congenital generalized lipodystrophy

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