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Progression of age‐related macular degeneration (AMD), the leading cause of blindness in the elderly, was followed in a cohort of 238 individuals from a single center. Individuals with an epsilon (ε)2 genotype (c.526C>T of reference sequence NM_000041.2) of the apolipoprotein (APOE) gene were...
A growing number of studies suggest that the outcome after invasive coronary treatment may be in part genetically determined. Here, we review the present status of outcome prediction of invasive coronary treatments by using genetic markers. Although some studies found an association between one...
Constitutional heterozygous inactivating mutations in the neurofibromatosis 2 (NF2) tumor suppressor gene cause the autosomal dominant disease NF2, and biallelic inactivating somatic NF2 mutations are found in a high proportion of unilateral sporadic vestibular schwannoma (USVS) and sporadic...
Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1, have been identified in Andersen syndrome (or Andersen‐Tawil syndrome), an inherited disorder characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We identified and...
Wiskott‐Aldrich syndrome (WAS) is caused by mutations in the gene encoding WAS protein (WASP ). Recently, somatic mosaicism caused by reversions or second‐site mutations has been reported in some inherited disorders including WAS. In this article, we describe somatic mosaicism in a...
The inherited deficiency of the von Willebrand factor‐cleaving protease ADAMTS13 is associated with rare forms of thrombotic thrombocytopenic purpura (TTP). We investigated a woman with a family history of chronic recurrent TTP and undetectable plasma levels of ADAMTS13 activity. Genetic...
X‐linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene (Jensen LR et al., Am. J. Hum. Genet. 76:227–236,...
The molecular basis of Glanzmann thrombasthenia (GT) was studied in 40 families from southern India. Of 23 identified mutations (13 in the αIIb (ITGA2B) gene and 10 in the β3 (ITGB3) gene), 20 were novel and three were described previously. Three mutations in the β3 gene–p.Leu143Trp...
We developed a novel quantitative microsphere suspension hybridization (QMH) assay for determination of genomic copy number by flow cytometry. Single copy (sc) products ranging in length from 62 to 2,304 nucleotides (Rogan et al., 2001; Knoll and Rogan, 2004) from ABL1 (chromosome 9q34), TEKT3...
De novo mutations in the SCN1A gene, encoding the alpha1‐subunit of the neuronal voltage‐gated sodium channel Nav1.1, are the most frequent genetic cause of Severe Myoclonic Epilepsy of Infancy known so far. A few mutations inherited from an asymptomatic or mildly affected parent have been...
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