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  • 7 Hits
  • 検索条件 : 絞込み (MeSH = Consanguinity)
生物種 リソース名 タイトル
ヒト・動物細胞 293T(RCB2202) A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms.
ゼブラフィッシュ gSAIzGFFM593A Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
ヒト・動物細胞 HEV0031 , HEV0032 , HEV0038 , HEV0041 A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease.
ヒト・動物細胞 Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
ゼブラフィッシュ Tg(chx10:GFP)/nns1 Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
ヒト・動物細胞 ΔRad51C-DT40 (RCB1623) Mutation of the RAD51C gene in a Fanconi anemia-like disorder.
ヒト・動物細胞 KOP(RCB2148) A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.