Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III -: art. no. e52

被引：50

作者：

Raas-Rothschild, A

Bargal, R

Goldman, O

Ben-Asher, E

Groener, JEM

Toutain, A

Stemmer, E

Ben-Neriah, Z

Flusser, H

Beemer, FA

Penttinen, M

Olender, T

Rein, AJJT

Bach, G

Zeigler, M

机构：

[1] Hadassah Univ, Med Ctr, Dept Human Genet, Jerusalem, Israel

[2] Weizmann Inst Sci, Dept Mol Genet, IL-76100 Rehovot, Israel

[3] Leiden Univ, Med Ctr, Dept Pediat, Leiden, Netherlands

[4] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands

[5] CHU Tours, Hop Bretonneau, Serv Genet, Tours, France

[6] Soroka Univ Hosp, Child Dev Unit, Beer Sheva, Israel

[7] Univ Med Ctr, Dept Med Genet, Utrecht, Netherlands

[8] Turku Univ, Cent Hosp, Clin Genet Unit, Turku, Finland

[9] Hadassah Univ, Med Ctr, Div Pediat Cardiol, Jerusalem, Israel

来源：

关键词：

D O I：

10.1136/jmg.2003.015222

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：5

共 17 条

[1] Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase .1. Purification and subunit structure
Bao, M
Booth, JL
Elmendorf, BJ
Canfield, WM
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (49) : 31437 - 31445
[2] BRIK R, 1993, J RHEUMATOL, V20, P133
[3] AN ATYPICAL FORM OF MUCOLIPIDOSIS-III
FREISINGER, P
PADOVANI, JC
MAROTEAUX, P
[J]. JOURNAL OF MEDICAL GENETICS, 1992, 29 (11) : 834 - 836
[4] MUCOLIPIDOSIS-III IS GENETICALLY HETEROGENEOUS
HONEY, NK
MUELLER, OT
LITTLE, LE
MILLER, AL
SHOWS, TB
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (23): : 7420 - 7424
[5] KELLY TE, 1975, JOHNS HOPKINS MED J, V137, P156
[6] TRAFFICKING OF LYSOSOMAL-ENZYMES IN NORMAL AND DISEASE STATES
KORNFELD, S
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1986, 77 (01) : 1 - 6
[7] KORNFELD S, 2001, METABOLIC MOL BASES, V3, P3469
[8] LITTLE LE, 1986, J BIOL CHEM, V261, P733
[9] Maroteaux P, 1966, Presse Med, V74, P2889
[10] ROENTGEN FINDINGS IN MUCOLIPIDOSIS III (PSEUDO-HURLER POLYDYSTROPHY)
MELHEM, R
DORST, JP
SCOTT, CI
MCKUSICK, VA
[J]. RADIOLOGY, 1973, 106 (01) : 153 - 160