Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: The hereditary motor and sensory neuropathy-Russe in depth

Clinical Genetics

Volumn 83, Issue 6, 2013, Pages 565-570

  Sevilla, T ^a,b   Martinez Rubio D ^c,d   Marquez C ^e   Paradas, C ^e   Colomer, J ^d,f   Jaijo, T ^d,g   Millan J M ^a,d,g   Palau, F ^c,d   Espinos C ^d,g,h  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^c INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^e HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^f HOSPITAL SANT JOAN DE DÉU   (Spain)

^g INSTITUTO DE INVESTIGACIÓN SANITARIA DEL HOSPITAL CLÍNICO SAN CARLOS IDISSC   (Spain)

^h UNIVERSITY OF VALENCIA   (Spain)

Author keywords

Charcot Marie Tooth disease; Founder mutation; Gypsy population; Hereditary motor and sensory neuropathy type Russe

Indexed keywords

ARTICLE; CLINICAL FEATURE; FEMALE; GENE MUTATION; GENETICS; GIPSY; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LIMB WEAKNESS; NERVE CONDUCTION; PRIORITY JOURNAL; SPAIN;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHARCOT-MARIE-TOOTH DISEASE; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; GEOGRAPHY; GYPSIES; HAPLOTYPES; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HEXOKINASE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION; PROTEINS; SPAIN; YOUNG ADULT;

EID: 84876801207     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12015     Document Type: Article

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