نتایج جستجو برای: autozygosity
تعداد نتایج: 143 فیلتر نتایج به سال:
the sarcoglycanopathies (sgps) are a subgroup of autosomal recessive limb girdle muscular dystrophies (lgmds). they are caused by mutations in gamma, alpha, beta, and delta sarcoglycans (sgs) genes. alpha-sgps are the most frequent form of sgps. muscle biopsy studies in patients with sarcoglycanopathies have indicated that loss of one sg subunit leads to instability of whole sg complex. autozy...
INTRODUCTION Nemaline myopathy is a rare disorder characterized by skeletal muscle weakness of varying severity and onset, with the presence of nemaline rods on muscle biopsy. Congenital nemaline body myopathy due to mutations in TNNT1 has hitherto only been described as a result of a single founder mutation in patients of Amish origin and in 2 other individuals with different recessive mutatio...
T he development of a silicon chip, such as the Affymetrix 10K Xba 131, bearing sufficient oligonucleotides to analyse 10 913 single nucleotide polymorphisms (SNPs) presents a new method for seeking autosomal recessive loci. This letter describes a practical strategy to analyse the data output of such an ‘‘SNP-chip’’ for this purpose. Autozygosity mapping, first suggest by Lander and Botstein, ...
The use of autozygosity as a mapping tool in the search for autosomal recessive disease genes is well established. We hypothesized that autozygosity not only unmasks the recessiveness of disease causing variants, but can also reveal natural knockouts of genes with less obvious phenotypic consequences. To test this hypothesis, we exome sequenced 77 well phenotyped individuals born to first cousi...
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