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Screening of Subtelomeric Rearrangements in 100 Korean Pediatric Patients with Unexplained Mental Retardation and Anomalies Using Subtelomeric FISH (Fluorescence In Situ Hybridization)

Rearrangements of the subtelomeric regions of chromosomes account for a significant proportion of the underlying genetic defects in both idiopathic mental retardation (MR) and multiple congenital anomalies. To detect the rearrangements, a set of subtelomeric fluorescence in situ hybridization (FISH)...

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Detalles Bibliográficos
Autores principales: Park, Hyun-Kyung, Kim, Hee-Jin, Kim, Hyun-Jun, Han, Sung-Hee, Kim, Young-Jae, Kim, Sun-Hee
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2526410/
https://www.ncbi.nlm.nih.gov/pubmed/18756040
http://dx.doi.org/10.3346/jkms.2008.23.4.573