The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4

Clinical Genetics

Volumn 71, Issue 4, 2007, Pages 343-349

  Claramunt, R ^a   Sevilla, T ^a   Lupo, V ^a   Cuesta, A ^a   Millan J M ^a   Vilchez J J ^a   Palau, F ^a   Espinós, Carmen ^a  

^a HOSPITAL UNIVERSITARIO LA FE   (Spain)

Author keywords

Charcot; Founder effect; Gypsy population; Marie; SH3TC2 gene; Tooth disease type 4

Indexed keywords

CARRIER PROTEIN; PROTEIN C MYB; PROTEIN SH3TC2; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BOTTLENECK POPULATION; CONTROLLED STUDY; DISEASE CLASSIFICATION; FAMILY; FOUNDER EFFECT; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GIPSY; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN; SPAIN;

CHARCOT-MARIE-TOOTH DISEASE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 5; EVOLUTION, MOLECULAR; FEMALE; FOUNDER EFFECT; GENES, RECESSIVE; GYPSIES; HAPLOTYPES; HUMANS; MALE; PEDIGREE; POINT MUTATION; PROTEINS; SPAIN;

EID: 34247571924     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00774.x     Document Type: Article

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