Two new nonsense mutations (Q80X; Q389X) in patients with severe Hunter syndrome (mucopolysaccharidosis type II.)

Human mutation

Volumn 7, Issue 2, 1996, Pages 184-185

  Carrozzo, R ^a   Tonlorenzi, R ^a   Corsolini, F ^a   Gatti, R ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EXON; GENETICS; HUMAN; HUNTER SYNDROME; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

BASE SEQUENCE; CODON, TERMINATOR; EXONS; HUMANS; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS II; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0029679965     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1380070204     Document Type: Article

References (0)