Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.
about
The low frequency of recessive disease: insights from ENU mutagenesis, severity of disease phenotype, GWAS associations, and demography: an analytical review.HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.A unique LAMB3 splice-site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries.HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL.Kidney diseases in Roma and non-Roma children from eastern Slovakia: are Roma children more at risk?Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C.
P2860
Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.
description
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name
Founder mutations in NDRG1 and ...... mong Roma/Gypsies in Slovakia.
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Founder mutations in NDRG1 and ...... mong Roma/Gypsies in Slovakia.
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type
label
Founder mutations in NDRG1 and ...... mong Roma/Gypsies in Slovakia.
@en
Founder mutations in NDRG1 and ...... mong Roma/Gypsies in Slovakia.
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prefLabel
Founder mutations in NDRG1 and ...... mong Roma/Gypsies in Slovakia.
@en
Founder mutations in NDRG1 and ...... mong Roma/Gypsies in Slovakia.
@nl
P2093
P2860
P1476
Founder mutations in NDRG1 and ...... mong Roma/Gypsies in Slovakia.
@en
P2093
Alexandra Bozikova
Dana Gabrikova
Iveta Tothova
Jarmila Bernasovska
Martin Mistrik
Regina Behulova
Sona Macekova
P2860
P2888
P304
P356
10.1007/S13353-013-0168-7
P577
2013-08-31T00:00:00Z