Late-onset G(M2) gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180→His) in the Hex A α-chain gene

Neurology

Volumn 47, Issue 2, 1996, Pages 547-552

  De Gasperi, R ^a   Gama Sosa, M A ^a   Battistini, S ^a   Yeretsian, J ^a   Raghavan, S ^a   Zelnik, N ^a   Leshinsky, E ^a   Kolodny, E H ^a  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; GANGLIOSIDE GM2;

ADULT; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; EXON; FEMALE; GENE INSERTION; GM2 GANGLIOSIDOSIS; HETEROZYGOTE; HUMAN; JEW; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; SIBLING; GENETICS; MUTATION; ONSET AGE; POLYMERASE CHAIN REACTION; TAY SACHS DISEASE;

ADULT; AGE OF ONSET; FEMALE; G(M2) GANGLIOSIDE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; TAY-SACHS DISEASE;

EID: 0030210906     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.47.2.547     Document Type: Article

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