Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype

Journal of the Neurological Sciences

Volumn 195, Issue 2, 2002, Pages 129-138

  Yoshizawa, Toshihiro ^a   Kohno, Yutaka ^a   Nissato, Sumiko ^a   Shoji, Shin'ichi ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

Author keywords

Compound heterozygosity; GM2 gangliosidoses; Motor neuron disease phenotype; Mutation; Sandhoff disease

Indexed keywords

4 METHYLUMBELLIFERYL 2 ACETAMIDO 2 DEOXY BETA DEXTRO GLUCOPYRANOSIDE; ARGININE; BETA N ACETYLHEXOSAMINIDASE; BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B; DNA FRAGMENT; GLUCOSE DERIVATIVE; HISTIDINE; MESSENGER RNA; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL CULTURE; CELL STRAIN COS1; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME INACTIVATION; ENZYME SUBSTRATE; ENZYME SUBUNIT; EXON; FAMILY; FATHER; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HEAT; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; JAPAN; LEUKOCYTE; MALE; MOTHER; MOTOR NEURON DISEASE; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SANDHOFF DISEASE; SKIN FIBROBLAST;

EID: 0037196882     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(02)00007-2     Document Type: Article

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