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3 de abr. de 2024 · MPDU1 (Mannose-P-Dolichol Utilization Defect 1) is a Protein Coding gene. Diseases associated with MPDU1 include Congenital Disorder Of Glycosylation, Type If and Developmental And Epileptic Encephalopathy 36 . Among its related pathways are Diseases of glycosylation and Metabolism of proteins .
17 de sept. de 1999 · Cardiac conduction defects of varying degrees of severity are common. In one series, 90% of individuals had conduction defects. These defects are a significant cause of early mortality in individuals with DM1 and are sometimes associated with sudden death.
30 de jul. de 2002 · The diagnosis of Glut1 DS is established in a proband with suggestive clinical findings, normal blood glucose concentration, CSF glucose concentration <60 mg/dL, and the identification of a heterozygous pathogenic variant (or rarely, biallelic pathogenic variants) in SLC2A1 by molecular genetic testing.
Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident.
The FBN1 gene provides instructions for making a large protein called fibrillin-1. Learn about this gene and related health conditions.
18 de abr. de 2001 · FBN1 -related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease.
Defectos en un único Gen. Existen muchos defectos diferentes en un único gen que requieren el cuidado clínico de un médico o de otro profesional de la salud. En el siguiente directorio se enumeran algunos de ellos, para los cuales le proveemos una breve descripción. Descripción General de los Defectos en un único Gen.
