Concepedia

A novel splice site mutation intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA

Shunji Tomatsu, Seiji Fukuda, Tatsuya Ogawa, Zenichiro Kato, Kouji Isogal, Nsomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Kazuko Sukegawa, Tadao Orii

Human Molecular Genetics · 1994 · 26 citations · 0 references

DOI

Concepts

Life SciencesGeneticsPediatricsHuman GeneticsMedical GeneticsPediatric GeneticsGenetic DisordersGenetic SyndromesGermline Variant AnalysisMutation AnalysisRare Disease GeneticsSplice-site Mutations

Abstract

Shunji Tomatsu, Seiji Fukuda, Tatsuya Ogawa, Zenichiro Kato, Kouji Isogal, Nsomi Kondo, Yasuyuki Suzuki, Nobuyuki Shimozawa, Kazuko Sukegawa, Tadao Orii; A nove