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1.
Journal of Leukemia & Lymphoma ; (12): 626-628, 2011.
Artículo en Chino | WPRIM | ID: wpr-671930

RESUMEN

Extranodal NK/T cell lymphoma is a kind of disease that is associated with EB virus infection and characterized by progressive distruction and necrosis of the nasal cavity and midline facial tissues, with histological features of diffuse lymphomatous cells inflitrate and inflammatory cells as abackground or angiocentric and angioinvasive inflitrate.The prognosis is poor,as it is highly aggressive and it can progress rapidly.This article mainly discusses and reviews the progress in treatment methods.

2.
Chinese Journal of Medical Genetics ; (6): 259-262, 2010.
Artículo en Chino | WPRIM | ID: wpr-349001

RESUMEN

<p><b>OBJECTIVE</b>To identify the gene mutation for two Chinese families with autosomal dominant non-syndromic hearing impairment(NSHI).</p><p><b>METHODS</b>Two NSHI pedigrees with common ancestor were identified by clinical examination and family investigation. Linkage analysis was performed for all known NSHI loci, and all exons and exon-intron boundaries of the non-muscle myosin heavy chain 14 (MYH14) gene were amplified by PCR and sequenced.</p><p><b>RESULTS</b>The disease-causing gene of these 2 pedigrees was fine mapped to the DFNA4 locus on 19q13.33. A heterozygous transition of c. 359T>C (p.S120L) in MYH14 gene was identified. The mutation was detected in all patients but not in normal members in the two families.</p><p><b>CONCLUSION</b>It is the first report that mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment.</p>


Asunto(s)
Femenino , Humanos , Masculino , Pérdida Auditiva , Genética , Repeticiones de Microsatélite , Genética , Mutación , Cadenas Pesadas de Miosina , Genética , Miosina Tipo II , Genética , Linaje , Reacción en Cadena de la Polimerasa
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