Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B 1 variant

Journal of Medical Genetics

Volumn 33, Issue 4, 1996, Pages 341-343

  Ribeiro, M G ^a   Sonin, T ^b   Pinto, R A ^a   Fontes, A ^a   Ribeiro, H ^a   Pinto, E ^a   Palmeira, M M ^b   Sa Miranda M C ^a  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b HOSPITAL DE SÃO JOÃO   (Portugal)

Author keywords

HEXA mutations; Tay Sachs disease; hexosaminidase

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME SUBUNIT; ETHNIC DIFFERENCE; GENE MUTATION; GM2 GANGLIOSIDOSIS; HUMAN; PHENOTYPE; PORTUGAL; PRIORITY JOURNAL; TAY SACHS DISEASE;

ADULT; ALLELES; AMINO ACID SEQUENCE; ARGININE; BETA-N-ACETYLHEXOSAMINIDASE; DNA MUTATIONAL ANALYSIS; G(M2) GANGLIOSIDE; GANGLIOSIDOSES; HISTIDINE; HUMANS; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PORTUGAL;

EID: 0029916348     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.4.341     Document Type: Article

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