syndromic hearing loss

基本解釋

Objective To identify the pathogenic gene for a non-syndromic hearing loss family.
目的確定一個(gè)非綜郃征型耳聾家系的致病基因。
OBJECTIVE To investigate whether the KCNN4 gene and KPTN gene contribute to a Chinese non-syndromic hearing loss pedigree linked to DFNA4 with positional candidate approach.
目的應(yīng)用位置候選基因法了解中國DFNA4型耳聾家系定位區(qū)域內(nèi)的兩個(gè)基因KCNN4、KPTN與該家系耳聾表型的相關(guān)性。
Objective To investigate if the KCNQ4 gene contributes to a Chinese non-syndromic hearing loss pedigree and to detect the gene mutations in the pedigree using candidate approach.
目的應(yīng)用候選基因法了解KCNQ4基因?qū)χ袊@家系的影響，檢測(cè)其突變形式。