منابع مشابه
Intragenic duplication and divergence in the spectrin superfamily of proteins.
Many structural, signaling, and adhesion molecules contain tandemly repeated amino acid motifs. The alpha-actinin/spectrin/dystrophin superfamily of F-actin-crosslinking proteins contains an array of triple alpha-helical motifs (spectrin repeats). We present here the complete sequence of the novel beta-spectrin isoform beta(Heavy)-spectrin (beta H). The sequence of beta H supports the origin of...
متن کاملIdentification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome.
Birt-Hogg-Dubé syndrome (BHDS), caused by germline mutations in the folliculin (FLCN) gene, predisposes individuals to develop fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and kidney cancer. The FLCN mutation detection rate by bidirectional DNA sequencing in the National Cancer Institute BHDS cohort was 88%. To determine if germline FLCN intragenic deletions/duplications were...
متن کاملIntragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis
Cystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of sticky and heavy mucus that can damage several organs. CF shows variable expressivity in affected individuals, but it typically causes respiratory and digestive complications as well as congenital bilateral absence of the vas deferens in males. Individuals with classic CF usually have variants that prod...
متن کاملIntragenic breakpoint
DNA strand breaks are a prerequisite for many cancer-associated genomic alterations, including amplifications, deletions, inversions, and structural rearrangements. High-throughput technologies that measure genome-wide DNA quantities, such as DNA sequencing and single nucleotide polymorphism or comparative genomic hybridization arrays, enable researchers to accurately detect such lesions. Recen...
متن کاملA recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.
A complete hydatidiform mole (CHM) is an abnormal pregnancy with hyperproliferative vesicular trophoblast and no fetal development. Most CHM are sporadic and androgenetic, but recurrent HM have biparental inheritance (BiHM) with disrupted DNA methylation at differentially methylated regions (DMRs) of imprinted loci. Some women with recurrent BiHM have mutations in the NLRP7 gene on chromosome 1...
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ژورنال
عنوان ژورنال: Pancreas
سال: 2011
ISSN: 0885-3177
DOI: 10.1097/mpa.0b013e3182152fdf