Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis
about
Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).Genotype phenotype correlation in Asian Indian von Hippel-Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma.Differences in genetic and epigenetic alterations between von Hippel-Lindau disease-related and sporadic hemangioblastomas of the central nervous system.Clinical features of pancreatic involvement in von Hippel-Lindau disease: a retrospective study of 55 cases in a single center.
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P2860
Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 28 February 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Improved detection of germline ...... t probe amplification analysis
@en
Improved detection of germline ...... probe amplification analysis.
@nl
type
label
Improved detection of germline ...... t probe amplification analysis
@en
Improved detection of germline ...... probe amplification analysis.
@nl
prefLabel
Improved detection of germline ...... t probe amplification analysis
@en
Improved detection of germline ...... probe amplification analysis.
@nl
P2860
P1476
Improved detection of germline ...... t probe amplification analysis
@en
P2093
Hyun-Jung Cho
Jong-Won Kim
P2860
P356
10.3346/JKMS.2009.24.1.77
P577
2009-02-28T00:00:00Z