Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

Journal of Medical Genetics

Volumn 37, Issue 8, 2000, Pages 579-580

  Vuillaumier Barrot, Sandrine ^a   Seta, Nathalie ^a,d   Hetet, Gilles ^b   Barnier, Anne ^a   Dupré, Thierry ^a   Cuer, Maryvonne ^a   De Lonlay, Pascale ^c   Cormier Daire, Valérie ^c   Durand, Geneviève ^a   Grandchamp, Bernard ^a,b  

^a BICHAT HOSPITAL   (France)

^b INSERM   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Faculte de Pharmacie   (France)

Author keywords

CDG; Phosphomannomutase; PMM2 mutations

Indexed keywords

MUTANT PROTEIN; PHOSPHOMANNOMUTASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ESCHERICHIA COLI; FRANCE; GENE EXPRESSION SYSTEM; GLYCOSYLATION; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MISSENSE MUTATION; PRIORITY JOURNAL;

EID: 0033864766     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.8.579     Document Type: Article

References (7)

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2. Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type Ia. Am J Hum Genet 1998;62:542-50.
3. Kjaergaard S, Skovby F, Schwartz M. Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. Eur J Hum Genet 1998;6:331-6.
4. Vuillaumier-Barrot S, Barnier A, Cuer M, Durand G, Grandchamp B, Seta N. Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type la disrupting a splicing enhancer resulting in exon 5 skipping. Hum Mutat 1999;14:543-4.
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6. Van Schafingen E, Jaeken J. Phosphomannomutase deficiency is cause of carbohydrate-deficient glycoproiein syndrome type I. FEBS Lett 1995;377:318-20.
7. Pirard M, Matthijs G, Heykants L, Schollen E, Grunewald S, Jaeken J, van Schaftingen E. Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type Ia on the activity of phosphomannomutase 2. FEBS Lett 1999;452:319-22.