Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe

Mucopolysaccharidosis type IVA, also known as Morquio (Morquio-Brailsford) syndrome results from accumulation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S), whereas the primary cause is mutations in the gene encoding galactosamine (N-acetyl)-6-sulfatase (GALNS). Phenotypically it seems to...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Appl Genet
Egile Nagusiak: Jezela-Stanek, Aleksandra, Różdżyńska-Świątkowska, Agnieszka, Kulpanovich, Anna, Ciara, Elżbieta, Marucha, Jolanta, Tylki-Szymańska, Anna
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Springer Berlin Heidelberg 2019
Gaiak:
Human Genetics • Original Paper
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6483970/
https://ncbi.nlm.nih.gov/pubmed/30927141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-019-00491-1
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