نتایج جستجو برای: protein families

تعداد نتایج: 1343866  

Journal: :Computational and Structural Biotechnology Journal 2013

Journal: :Journal of Allergy and Clinical Immunology 2016

2009
Kira Heller

On the surface, the protein universe seems dauntingly vast. Driven by the increasingly rapid accumulation of genomic sequences, the past few decades have yielded sequence data for several million gene products, leaving researchers struggling to keep up. Of the 10,000 protein families listed in the latest release from PFAM (http://pfam.sanger.ac.uk/), an online database that groups proteins base...

Mutations in the connexin 26 (Cx26) gene at the DFNB1 locus on chromosome 13q12 are associated with autosomal recessive non-syndromic hearing loss (ARNSHL). There are many known mutations in this gene that cause hearing loss. A single frameshift, at position 35 (35delG) accounts for 50% of mutations in the Caucasian population with carrier frequencies of 1.5-2.5%. In this study we investigated ...

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