Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.

Human mutation

Volumn 29, Issue 6, 2008, Pages

  Santamaria, Raül ^a   Michelakakis, Helen ^a   Moraitou, Marina ^a   Dimitriou, Evangelia ^a   Dominissini, Silvia ^a   Grossi, Serena ^a   Sánchez Ollé, Gessamí ^a   Chabás, Amparo ^a   Pittis, María Gabriela ^a   Filocamo, Mirella ^a   Vilageliu, Lluïsa ^a   Grinberg, Daniel ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; MICROSATELLITE DNA;

ARTICLE; EASTERN EUROPE; GAUCHER DISEASE; GENETICS; GREECE; HAPLOTYPE; HOMOZYGOTE; HUMAN; ITALY; MUTATION; NUCLEOTIDE SEQUENCE;

DNA MUTATIONAL ANALYSIS; EUROPE, EASTERN; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; GREECE; HAPLOTYPES; HOMOZYGOTE; HUMANS; ITALY; MICROSATELLITE REPEATS; MUTATION;

EID: 47049095383     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.20776     Document Type: Article

References (0)