Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.

Human mutation

Volumn 14, Issue 6, 1999, Pages 543-544

  Vuillaumier Barrot, S ^a   Barnier, A ^a   Cuer, M ^a   Durand, G ^a   Grandchamp, B ^a   Seta, N ^a  

^a BICHAT HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MUTASE; PHOSPHOMANNOMUTASE;

ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYMOLOGY; ESCHERICHIA COLI; GENETIC TRANSFECTION; GENETICS; HETEROZYGOTE; HUMAN; METABOLISM; MISSENSE MUTATION; RNA SPLICING;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; ESCHERICHIA COLI; HETEROZYGOTE; HUMANS; MUTATION, MISSENSE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); RNA SPLICING; TRANSFECTION;

MLCS; MLOWN;

EID: 0033472796     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(199912)14:6<543::aid-humu17>3.0.co;2-s     Document Type: Article

References (0)