A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalPLoS One
Volume7
Issue number7
Pages (from-to)e40281
Number of pages11
ISSN1932-6203
DOIs
Publication statusPublished - 2012
MoE publication typeA1 Journal article-refereed

Fields of Science

  • BETA-GLUCURONIDASE DEFICIENCY
  • ENZYME REPLACEMENT THERAPY
  • L-IDURONIDASE LARONIDASE
  • MPS-VII
  • OSTEOBLAST DIFFERENTIATION
  • OSTEOGENESIS IMPERFECTA
  • IDENTIFICATION
  • MODEL
  • MOUSE
  • CDNA
  • 3111 Biomedicine
  • 413 Veterinary science

Cite this

@article{7d6df6dcd1b84e3e9aed2f40c96255fd,
title = "A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII",
keywords = "BETA-GLUCURONIDASE DEFICIENCY, ENZYME REPLACEMENT THERAPY, L-IDURONIDASE LARONIDASE, MPS-VII, OSTEOBLAST DIFFERENTIATION, OSTEOGENESIS IMPERFECTA, IDENTIFICATION, MODEL, MOUSE, CDNA, 3111 Biomedicine, 413 Veterinary science",
author = "Hyt{\"o}nen, {Marjo Kristiina} and Meharji Arumilli and Lappalainen, {Anu K.} and Heli Kallio and Marjatta Snellman and Kirsi Sainio and Hannes Lohi",
year = "2012",
doi = "10.1371/journal.pone.0040281",
language = "English",
volume = "7",
pages = "e40281",
journal = "PLoS One",
issn = "1932-6203",
publisher = "PUBLIC LIBRARY OF SCIENCE",
number = "7",

}

A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII. / Hytönen, Marjo Kristiina; Arumilli, Meharji; Lappalainen, Anu K.; Kallio, Heli; Snellman, Marjatta; Sainio, Kirsi; Lohi, Hannes.

In: PLoS One, Vol. 7, No. 7, 2012, p. e40281.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - A Novel GUSB Mutation in Brazilian Terriers with Severe Skeletal Abnormalities Defines the Disease as Mucopolysaccharidosis VII

AU - Hytönen, Marjo Kristiina

AU - Arumilli, Meharji

AU - Lappalainen, Anu K.

AU - Kallio, Heli

AU - Snellman, Marjatta

AU - Sainio, Kirsi

AU - Lohi, Hannes

PY - 2012

Y1 - 2012

KW - BETA-GLUCURONIDASE DEFICIENCY

KW - ENZYME REPLACEMENT THERAPY

KW - L-IDURONIDASE LARONIDASE

KW - MPS-VII

KW - OSTEOBLAST DIFFERENTIATION

KW - OSTEOGENESIS IMPERFECTA

KW - IDENTIFICATION

KW - MODEL

KW - MOUSE

KW - CDNA

KW - 3111 Biomedicine

KW - 413 Veterinary science

U2 - 10.1371/journal.pone.0040281

DO - 10.1371/journal.pone.0040281

M3 - Article

VL - 7

SP - e40281

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 7

ER -