Identification of three novel mutations in the MYO7A gene
نویسندگان
چکیده
منابع مشابه
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients
Objective(s): Mucopolysaccharidosis VI (MPS VI) or Maroteaux-Lamy syndrome is a rare metabolic disorder, resulting from the deficient activity of the lysosomal enzyme arylsulfatase B (ARSB). The enzymatic defect of ARSB leads to progressive lysosomal storage disorder and accumulation of glycosaminoglycan (GAG) dermatan sulfate (DS), which causes harmful effects on various organs and tissues an...
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The intron-exon structure of Khorasan native fowl interleukin-2 (IL-2) was investigated. For this purpose, twenty chickens were selected from the Native Fowl Breeding Station of Khorasan province, and genomic DNA was extracted using a modified conventional DNA extraction protocol. An 875 bp fragment of IL-2 was successfully amplified, including a small part of the promoter, exon 1, intron 1, an...
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متن کاملThe first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families
Objective(s): Targeted next-generation sequencing (NGS) provides a consequential opportunity to elucidate genetic factors in known diseases, particularly in profoundly heterogeneous disorders such as non-syndromic hearing loss (NSHL). Hearing impairments could be classified into syndromic and non-syndromic types. This study intended to assess the significance of mutations in these genes to the ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 1999
ISSN: 1059-7794,1098-1004
DOI: 10.1002/(sici)1098-1004(1999)14:2<181::aid-humu11>3.0.co;2-3