Mutation analysis in 17 patients with deficiency in acid ß-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

E Paschke; I Milos; H Kreimer-Erlacher; G Hoefler; M Beck; M Hoeltzenbein; W Kleijer; T Levade; H Michelakakis; B Radeva

Mutation analysis in 17 patients with deficiency in acid ß-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

E Paschke, I Milos, H Kreimer-Erlacher, G Hoefler, M Beck, M Hoeltzenbein, W Kleijer, T Levade, H Michelakakis, B Radeva

Research output: Contribution to journal › Article › Academic › peer-review

Original language	Undefined/Unknown
Pages (from-to)	159-166
Number of pages	8
Journal	Human Genetics
Volume	109
Publication status	Published - 2001
Externally published	Yes

Research programs

EMC MGC-02-96-01

Cite this

@article{5e989909ab6448c3b5eea03e592924a1,

title = "Mutation analysis in 17 patients with deficiency in acid {\ss}-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B",

author = "E Paschke and I Milos and H Kreimer-Erlacher and G Hoefler and M Beck and M Hoeltzenbein and W Kleijer and T Levade and H Michelakakis and B Radeva",

year = "2001",

language = "Undefined/Unknown",

volume = "109",

pages = "159--166",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Science+Business Media",

}

TY - JOUR

T1 - Mutation analysis in 17 patients with deficiency in acid ß-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

AU - Paschke, E

AU - Milos, I

AU - Kreimer-Erlacher, H

AU - Hoefler, G

AU - Beck, M

AU - Hoeltzenbein, M

AU - Kleijer, W

AU - Levade, T

AU - Michelakakis, H

AU - Radeva, B

PY - 2001

Y1 - 2001

M3 - Article

SN - 0340-6717

VL - 109

SP - 159

EP - 166

JO - Human Genetics

JF - Human Genetics

ER -