Variant: rs104894531 

    present in Gene: PMM2;LOC100130283
    present in Chromosome: 16
    Position on Chromosome: 8847753
    Alleles of this Variant: C/G;T

rs104894531 in PMM2;LOC100130283 gene and Congenital disorder of glycosylation type 1A PMID 9140401 1997 Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).

PMID 15844218 2005 A new insight into PMM2 mutations in the French population.

PMID 10571956 1999 Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.

PMID 10527672 1999 Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia).

PMID 12357336 2002 DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

PMID 9781039 1998 Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 11350185 2001 Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.

PMID 17307006 2007 Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.

PMID 10801058 2000 Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.

PMID 10602363 1999 We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1).

PMID 9497260 1998 Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

PMID 11058896 2000 PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

PMID 11058895 2000 Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

PMID 10066032 1999 Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.