Variant: rs104894590 

    present in Gene: NAGLU
    present in Chromosome: 17
    Position on Chromosome: 42544027
    Alleles of this Variant: G/A;T

rs104894590 in NAGLU gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V PMID 9443878 1998 NAGLU mutations underlying Sanfilippo syndrome type B.

rs104894590 in NAGLU gene and MPS III B PMID 14984474 2004 Sanfilippo B syndrome: molecular defects in Greek patients.

PMID 10094189 1999 Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.

PMID 12202988 2002 Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations.

PMID 11836372 2002 Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

PMID 11793481 2002 Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.

PMID 11286389 2001 Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.

PMID 11068184 2000 Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient.

PMID 9832037 1998 Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

PMID 15933803 2005 Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.

PMID 16151907 2005 Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

PMID 9443878 1998 NAGLU mutations underlying Sanfilippo syndrome type B.

PMID 20852935 2010 Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.

PMID 9443875 1998 Genotype-phenotype correspondence in Sanfilippo syndrome type B.

PMID 8650226 1996 Five mutations were identified in cells of patients with Sanfilippo syndrome type B: 503del10, R297X, R626X, R643H, and R674H.

PMID 9950362 1999 Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

PMID 11153910 2000 Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.

PMID 28101780 2017 Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.