Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant

American Journal of Human Genetics

Volumn 59, Issue 5, 1996, Pages 1048-1056

  Schepers, U ^a   Glombitza, G ^a   Lemm, T ^a   Hoffmann, A ^a   Chabas, A ^b   Ozand, P ^b   Sandhoff, K ^a  

^a UNIVERSITY OF BONN   (Germany)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GM2 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; PRIORITY JOURNAL;

ADULT; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; G(M2) ACTIVATOR PROTEIN; GANGLIOSIDOSES; HUMANS; INFANT; POLYMERASE CHAIN REACTION; PROTEINS; RNA, MESSENGER;

ESCHERICHIA COLI;

EID: 0029910538     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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