Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations

被引：6

作者：

Ausems, MGEM

ten Berg, K

Sandkuijl, LA

Kroos, MA

Bardoel, AFJ

Roumelioti, KN

Reuser, AJJ

Sinke, R

Wijmenga, C

机构：

[1] Univ Utrecht, Med Ctr, Dept Med Genet, NL-3508 AB Utrecht, Netherlands

[2] Erasmus Univ, Acad Hosp, Dept Clin Genet, Rotterdam, Netherlands

来源：

关键词：

D O I：

10.1136/jmg.38.8.527

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：527 / 529

页数：3

共 22 条

[1] Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling
Ausems, MGEM
Verbiest, J
Hermans, MMP
Kroos, MA
Beemer, FA
Wokke, JHJ
Sandkuijl, LA
Reuser, AJJ
van der Ploeg, AT
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 1999, 7 (06) : 713 - 716
[2] Ausems MGEM, 1996, CLIN GENET, V49, P325
[3] The African origin of the common mutation in African American patients with glycogen-storage disease type II
Becker, JA
Vlach, J
Raben, N
Nagaraju, K
Adams, EM
Hermans, MM
Reuser, AJJ
Brooks, SS
Tifft, CJ
Hirschhorn, R
Huie, ML
Nicolino, M
Plotz, PH
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (04) : 991 - 994
[4] CURTIS D, 1995, AM J HUM GENET, V56, P811
[5] THE EFFECT OF A SINGLE-BASE PAIR DELETION (DELTA-T525) AND A C1634T MISSENSE MUTATION (PRO545LEU) ON THE EXPRESSION OF LYSOSOMAL ALPHA-GLUCOSIDASE IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE-II
HERMANS, MMP
DEGRAAFF, E
KROOS, MA
MOHKAMSING, S
EUSSEN, BJ
JOOSSE, M
WILLEMSEN, R
KLEIJER, WJ
OOSTRA, BA
REUSER, AJJ
[J]. HUMAN MOLECULAR GENETICS, 1994, 3 (12) : 2213 - 2218
[6] Hermans MMP, 1998, HUM MUTAT, V11, P209, DOI 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.3.CO
[7] 2-R
[8] Hirschhorn R, 1999, J MED GENET, V36, P85
[9] HIRSCHHORN R, 1994, METABOLIC MOL BASES, P2443
[10] HUIE ML, 1994, HUM MOL GENET, V3, P2231