The propositus was a healthy Han ethnic newborn female.
先证者为一健康汉族女性新生儿。
The propositus was a young man of Li ethnic group, belonging to heterozygote.
先证者为黎族男青年，属杂合子。
By PCR-SSCP analysis, 17 PCR products were identified with different mobility of single strand DNA in propositus. 9 suspectable mutations were revealed with DNA sequencing analysis.
SSCP分析发现17个外显子pcr产物单链dna迁移率异常，通过DNA直接测序发现9个外显子可疑突变，但反向测序均未能证实。
By PCR-SSCP analysis, 17 PCR products were identified with different mobility of single strand DNA in propositus. 9 suspectable mutations were revealed with DNA sequencing analysis.
SSCP分析发现17个外显子pcr产物单链dna迁移率异常，通过DNA直接测序发现9个外显子可疑突变，但反向测序均未能证实。
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