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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 · Suggestive Findings. Glucose transporter type 1 deficiency syndrome (Glut1 DS) should be suspected in individuals with one of the following two phenotypes. Classic Glut1 DS (~90% of affected individuals) Non-classic Glut1 DS (~10% of affected individuals)
3 de abr. de 2024 · MPDU1 Gene - Mannose-P-Dolichol Utilization Defect 1. Protein Coding (Updated: Apr 3, 2024 ; GC17P007583 ; GIFtS: 50 ) Search in Gene. Follow Gene. Jump to section. Aliases. Disorders. Domains. Drugs. Expression. Function. Genomics. Localization. Orthologs. Paralogs. Pathways. Products. Proteins. Publications. Sources. Summaries. Transcripts.
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 genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene.
The FBN1 gene provides instructions for making a large protein called fibrillin-1. Learn about this gene and related health conditions.
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.
