Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

Shunji Tomatsu; Seiji Fukuda; Alan Cooper; James E. Wraith; Naoto Yamada; Kouji Isogai; Zenichiro Kato; Kazuko Sukegawa; Naomi Kondo; Yasuyuki Suzuki; Nobuyuki Shimozawa; Tadao Orii

doi:10.1002/humu.1380060218

Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

Shunji Tomatsu
, Seiji Fukuda
, Alan Cooper
, James E. Wraith
, Naoto Yamada
, Kouji Isogai
, Zenichiro Kato
, Kazuko Sukegawa
, Naomi Kondo
, Yasuyuki Suzuki
, Nobuyuki Shimozawa
, Tadao Orii

Nemours Children's Health Research

Gifu University
University of Manchester

Producción científica › revisión exhaustiva

13 Citas (Scopus)

Idioma original	English
Páginas (desde-hasta)	195-196
Número de páginas	2
Publicación	Human Mutation
Volumen	6
N.º	2
DOI	https://doi.org/10.1002/humu.1380060218
Estado	Published - 1995

Acceder al documento

10.1002/humu.1380060218

Otros archivos y enlaces

https://www.scopus.com/pages/publications/0029131527

Citar esto

@article{e846445210dc49b4a48718ea6dde8375,

title = "Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)",

author = "Shunji Tomatsu and Seiji Fukuda and Alan Cooper and Wraith, \{James E.\} and Naoto Yamada and Kouji Isogai and Zenichiro Kato and Kazuko Sukegawa and Naomi Kondo and Yasuyuki Suzuki and Nobuyuki Shimozawa and Tadao Orii",

year = "1995",

doi = "10.1002/humu.1380060218",

language = "English",

volume = "6",

pages = "195--196",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

number = "2",

}

TY - JOUR

T1 - Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)

AU - Tomatsu, Shunji

AU - Fukuda, Seiji

AU - Cooper, Alan

AU - Wraith, James E.

AU - Yamada, Naoto

AU - Isogai, Kouji

AU - Kato, Zenichiro

AU - Sukegawa, Kazuko

AU - Kondo, Naomi

AU - Suzuki, Yasuyuki

AU - Shimozawa, Nobuyuki

AU - Orii, Tadao

PY - 1995

Y1 - 1995

UR - https://www.scopus.com/pages/publications/0029131527

U2 - 10.1002/humu.1380060218

DO - 10.1002/humu.1380060218

M3 - Article

C2 - 7581409

AN - SCOPUS:0029131527

SN - 1059-7794

VL - 6

SP - 195

EP - 196

JO - Human Mutation

JF - Human Mutation

IS - 2

ER -