Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

Human mutation

Volumn 27, Issue 10, 2006, Pages 1060-

  Santamaria, Raül ^a   Chabás, Amparo ^a   Coll, Maria Josep ^a   Miranda, Clara Sa ^a   Vilageliu, Lluïsa ^a   Grinberg, Daniel ^a  

^a UNIVERSITY OF BARCELONA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GALACTOSIDASE;

ADOLESCENT; ADULT; ARTICLE; CELL CULTURE; CHILD; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC POLYMORPHISM; GENETICS; GIPSY; GM1 GANGLIOSIDOSIS; HAPLOTYPE; HUMAN; INFANT; METHODOLOGY; MIDDLE AGED; MISSENSE MUTATION; MORQUIO SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PRESCHOOL CHILD; STOP CODON;

ADOLESCENT; ADULT; BASE SEQUENCE; BETA-GALACTOSIDASE; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FOUNDER EFFECT; FRAMESHIFT MUTATION; GANGLIOSIDOSIS, GM1; GENE FREQUENCY; GYPSIES; HAPLOTYPES; HUMANS; INFANT; MIDDLE AGED; MUCOPOLYSACCHARIDOSIS IV; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, GENETIC;

EID: 33749151183     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9451     Document Type: Article

References (0)