Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: Structural implications

Clinical Genetics

Volumn 75, Issue 5, 2009, Pages 503-504

  Vithayathil, J ^a   Gibney, G ^a   Baxevanis, A D ^a   Stubblefield, B K ^a   Sidransky, Ellen ^a   Tayebi, N ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; GLUCOSYLCERAMIDASE; GLUTAMINE; HISTIDINE;

AMINO ACID SUBSTITUTION; BODY DYSMORPHIC DISORDER; CARDIOVASCULAR DISEASE; CIS ISOMER; ENZYME ACTIVITY; EYE MOVEMENT DISORDER; GAUCHER DISEASE; GENE IDENTIFICATION; GENE INTERACTION; GENETIC ASSOCIATION; GENOTYPE; HUMAN; HYDROCEPHALUS; LETTER; MOLECULAR CLONING; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; STRUCTURAL GENOMICS;

GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS; MODELS, MOLECULAR; PHENOTYPE; POINT MUTATION; PROTEIN CONFORMATION;

EID: 65449160933     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01163.x     Document Type: Letter

References (8)

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