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Certification of gene mutations associated with congenital lipoid adrenal hyperplasia

机译:先天性类脂肾上腺增生相关基因突变的证明

摘要

Length (2) is; hStAR pseudogene DNA hStARcDNA that has been described 1 (1), in Table 7 or Table 6, or hStAR genomic DNA,: (57) a DNA or RNA molecule that has been isolated [summary] single There the second sequence is a subsequence of the first sequence of at least 10 nucleotides; SEQ third is substituted with nucleotides nucleotides differ in at least one of the sequence of the first or second (3) the; (4) The first (5) or said; SEQ fourth one nucleotide is inserted at least to the sequence of the first or second said one nucleotide is or is deleted at least from the sequence of the first or second the comprises a fifth sequence complementary to any of the sequences of the second or third, where (1) the molecule, the sequence (1) - U T is in any one of (5) may be a RNA molecule which has been replaced, the sequence of the third (2) the is at least 95% identical to the sequence of the first or second said, the second sequence (3) the the is not present in the mouse StARcDNA, fourth array (4) the can, with the proviso that it does not contain a deletion more nucleotides 200 and more nucleotides inserted 20.
机译:长度(2)是;已在表7或表6中描述过的hStAR假基因DNA hStARcDNA 1(1)或hStAR基因组DNA:(57)已分离的DNA或RNA分子[摘要]单个第二个序列是至少10个核苷酸的第一序列; SEQ第3个被核苷酸取代的核苷酸在第一个或第二个(3)的序列中至少一个不同。 (4)第一项(5)或所说的; SEQ SEQ ID NO:1至少在第一个或第二个核苷酸的序列中插入,所述一个或多个核苷酸至少从第一个或第二个核苷酸的序列中被删除或缺失,其包含与第二个或第三个核苷酸中的任何一个序列互补的第五个序列, (1)中的分子(1)-UT在(5)的任何一个中可以是已被替换的RNA分子,第三个(2)的序列与该序列至少95%相同在第一个或第二个序列中,第二个序列(3)在小鼠StARcDNA中不存在,第四个序列(4)在罐中,条件是它不包含缺失,更多核苷酸200和更多核苷酸插入20。

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