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Academic Journal

New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review

Subjects: Genetic diseases; Inborn; Interstitial lung disease

  • Source: Jönsson , Å L M , Hilberg , O , Simonsen , U , Christensen , J H & Bendstrup , E 2023 , ' New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar

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Academic Journal

Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

Subjects: Chronic kidney disease; Drug therapy; Genetic diseases

  • Source: Braun , F , Abed , A , Sellung , D , Rogg , M , Woidy , M , Eikrem , O , Wanner , N , Gambardella , J , Laufer , S D , Haas , F , Wong , M N , Dumoulin , B , Rischke , P , Mühlig , A , Sachs , W ,

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Academic Journal

Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis

Subjects: In-frame deletion; frameshift variant; nonsense variant

  • Source: Jönsson , Å L M , Hernando , N , Knöpfel , T , Mogensen , S , Bendstrup , E , Hilberg , O , Christensen , J H , Simonsen , U & Wagner , C A 2022 , ' Impaired phosphate transport in SLC34A2 variants

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Academic Journal

Mining the human phenome using allelic scores that index biological intermediates

Subjects: Adaptor Proteins; Vesicular Transport/genetics; Alleles

  • Source: Evans , D M , Brion , M J A , Paternoster , L , Kemp , J P , McMahon , G , Munafò , M , Whitfield , J B , Medland , S E , Montgomery , G W , Timpson , N J , St Pourcain , B , Lawlor , D A , Martin ,

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  • 1-4 of  4 نتائج ل ""Genetic diseases""