Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia

Journal of Applied Genetics

Volumn 54, Issue 4, 2013, Pages 455-460

  Gabrikova, Dana ^a   Mistrik, Martin ^b   Bernasovska, Jarmila ^a   Bozikova, Alexandra ^a   Behulova, Regina ^a   Tothova, Iveta ^a   Macekova, Sona ^a  

^a UNIVERSITY OF PRE OV   (Slovakia)

^b GENERAL HOSPITAL   (Slovakia)

Author keywords

Charcot Marie Tooth; CMT4D; CMT4G; HMSN Lom; HMSN Russe

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DEMYELINATING NEUROPATHY; DNA SEQUENCE; GENE MUTATION; GENETIC ANALYSIS; GIPSY; HEREDITARY MOTOR SENSORY NEUROPATHY; HK1 GENE; HUMAN; INHERITED NEUROPATHY; NDRG1 GENE; NEUROPATHY; NUCLEOTIDE SEQUENCE; SLOVAKIA;

CELL CYCLE PROTEINS; CHARCOT-MARIE-TOOTH DISEASE; CONSANGUINITY; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; GENETIC TESTING; GYPSIES; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HETEROZYGOTE; HEXOKINASE; HOMOZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; PEDIGREE; REFSUM DISEASE; SEQUENCE ANALYSIS, DNA; SLOVAKIA;

EID: 84886745529     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/s13353-013-0168-7     Document Type: Article

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