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  • PLEC gene: MedlinePlus Genetics
    The PLEC gene provides instructions for making a protein called plectin Learn about this gene and related health conditions
  • Plectin - Wikipedia
    Mutations in PLEC have been associated with epidermolysis bullosa simplex with muscular dystrophy [21] A missense variant of PLEC has been recently proposed as a cause of atrial fibrillation in some populations [22]
  • Entry - *601282 - PLECTIN; PLEC - OMIM - (OMIM. ORG)
    In an 18-year-old man with EBS and nail dystrophy, Tu et al (2020) identified compound heterozygosity for the L319P mutation and a c 2807G-A transition in exon 22 of the PLEC gene, resulting in a trp936-to-ter (W936X; 601282 0016) substitution
  • plec | Home
    Every celebration has a place find yours Find Book the perfect venues and services for your next celebration! About PLEC
  • PLEC plectin - NIH Genetic Testing Registry (GTR) - NCBI
    Clinical resource with information about PLEC, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Biological, clinical and population relevance of 95 loci for blood lipids , Discovery and refinement of loci associated with lipid levels , Epidermolysis bullosa simplex 5B, with muscular dystrophy, Epidermolysis bullosa simplex 5C, with
  • PLEC Gene - GeneCards
    PLEC isoforms are produced from a single gene through alternative 5' exons, and the short amino-terminal sequences direct different isoforms to distinct subcellular locations This isoform diversity is cell type- and development-dependent, with each tissue containing a unique set of plectin isoforms The protein localizes to focal adhesions, hemidesmosomes, the sarcolemma, and the cytoskeleton
  • PLEC - Plectin - Homo sapiens (Human) | UniProtKB
    A 9 bp deletion containing the initiation codon in exon 1f of PLEC have been found in limb-girdle muscular dystrophy patients The mutation results in deficient expression of isoform 9 and disorganization of the myofibers, without any effect on the skin
  • New PLEC gene mutations are likely cause of girls’ liver ailment PFIC
    Scientists in Thailand have identified four new mutations in the PLEC gene as the likely cause of progressive familial intrahepatic cholestasis (PFIC) in two unrelated baby girls
  • PLEC protein expression summary - The Human Protein Atlas
    PLEC protein expression summary - The Human Protein Atlas PLEC (EBS1, PCN, PLEC1, PLTN) protein expression summary
  • PLEC Gene: Functions, Diseases, and Research
    Learn about the PLEC gene, its role in cell adhesion and cytoskeletal integrity, and its association with various diseases like epidermolysis bullosa and muscular dystrophy Explore research on PLEC mutations and their implications





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