uniprot:Q14769 in citationmapping

3 results for uniprot:Q14769 in citationmapping

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Yogalingam G., Hopwood J.J. Hum. Mutat. 18:264-281(2001) GeneRIF 4669 · Mapped (8) Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic clinical and biological implications GeneRIF 4669
Sanfilippo syndrome in Turkey: identification of novel mutations in subtypes A and B. Emre S., Terzioglu M., Tokatli A., Coskun T., Ozalp I., Weber B., Hopwood J.J. Hum. Mutat. 19:184-185(2002) GeneRIF 4669 · UniProtKB (2) · Mapped (6) Sanfilippo syndrome (subtypes A and B) in Turkey: identification of novel mutations in SGSH and NAGLU GeneRIF 4669
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. Mangas M., Nogueira C., Prata M.J., Lacerda L., Coll M.J., Soares G., Ribeiro G., Amaral O., Ferreira C., Alves C. et al. Clin. Genet. 73:251-256(2008) GeneRIF 4669 · Mapped (3) The NAGLU gene in 11 Mucopolysaccharidosis type IIIB Portuguese patients was examined having identified five novel (M1K W147X G304V S522P and R533X) and four previously reported mutations (W168X R234C R565W and R643C). GeneRIF 4669