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Lowe level mosaicism detectable by DHPLC but not by direct sequencing
被引:45
作者
:
Jones, AC
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Jones, AC
[
1
]
Sampson, JR
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Sampson, JR
[
1
]
Cheadle, JP
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Cheadle, JP
[
1
]
机构
:
[1]
Univ Wales Coll Med, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
来源
:
HUMAN MUTATION
|
2001年
/ 17卷
/ 03期
关键词
:
D O I
:
10.1002/humu.8
中图分类号
:
Q3 [遗传学];
学科分类号
:
071007 ;
090102 ;
摘要
:
引用
收藏
页码:233 / 234
页数:2
相关论文
共 4 条
[1]
Bray Paula J., 2000, Human Mutation, V16, P364
[2]
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis
[J].
Jones, AC
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Jones, AC
;
Sampson, JR
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Sampson, JR
;
论文数:
引用数:
h-index:
机构:
Hoogendoorn, B
;
Cohen, D
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Cohen, D
;
Cheadle, JP
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Cheadle, JP
.
HUMAN GENETICS,
2000,
106
(06)
:663
-668
[3]
Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis
[J].
Kwiatkowska, J
论文数:
0
引用数:
0
h-index:
0
机构:
Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA
Kwiatkowska, J
;
Wigowska-Sowinska, J
论文数:
0
引用数:
0
h-index:
0
机构:
Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA
Wigowska-Sowinska, J
;
Napierala, D
论文数:
0
引用数:
0
h-index:
0
机构:
Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA
Napierala, D
;
Slomski, R
论文数:
0
引用数:
0
h-index:
0
机构:
Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA
Slomski, R
;
Kwiatkowski, DJ
论文数:
0
引用数:
0
h-index:
0
机构:
Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA
Kwiatkowski, DJ
.
NEW ENGLAND JOURNAL OF MEDICINE,
1999,
340
(09)
:703
-707
[4]
High rate of mosaicism in tuberous sclerosis complex
[J].
Verhoef, S
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Verhoef, S
;
Bakker, L
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Bakker, L
;
Tempelaars, AMP
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Tempelaars, AMP
;
Hesseling-Janssen, ALW
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Hesseling-Janssen, ALW
;
Mazurczak, T
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Mazurczak, T
;
Jozwiak, S
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Jozwiak, S
;
Fois, A
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Fois, A
;
Bartalini, G
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Bartalini, G
;
Zonnenberg, BA
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Zonnenberg, BA
;
van Essen, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
van Essen, AJ
;
Lindhout, D
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Lindhout, D
;
Halley, DJJ
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Halley, DJJ
;
van den Ouweland, AMW
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
van den Ouweland, AMW
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1999,
64
(06)
:1632
-1637
←
1
→
共 4 条
[1]
Bray Paula J., 2000, Human Mutation, V16, P364
[2]
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis
[J].
Jones, AC
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Jones, AC
;
Sampson, JR
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Sampson, JR
;
论文数:
引用数:
h-index:
机构:
Hoogendoorn, B
;
Cohen, D
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Cohen, D
;
Cheadle, JP
论文数:
0
引用数:
0
h-index:
0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
Cheadle, JP
.
HUMAN GENETICS,
2000,
106
(06)
:663
-668
[3]
Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis
[J].
Kwiatkowska, J
论文数:
0
引用数:
0
h-index:
0
机构:
Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA
Kwiatkowska, J
;
Wigowska-Sowinska, J
论文数:
0
引用数:
0
h-index:
0
机构:
Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA
Wigowska-Sowinska, J
;
Napierala, D
论文数:
0
引用数:
0
h-index:
0
机构:
Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA
Napierala, D
;
Slomski, R
论文数:
0
引用数:
0
h-index:
0
机构:
Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA
Slomski, R
;
Kwiatkowski, DJ
论文数:
0
引用数:
0
h-index:
0
机构:
Brigham & Womens Hosp, Div Expt Med & Med Oncol, Boston, MA 02115 USA
Kwiatkowski, DJ
.
NEW ENGLAND JOURNAL OF MEDICINE,
1999,
340
(09)
:703
-707
[4]
High rate of mosaicism in tuberous sclerosis complex
[J].
Verhoef, S
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Verhoef, S
;
Bakker, L
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Bakker, L
;
Tempelaars, AMP
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Tempelaars, AMP
;
Hesseling-Janssen, ALW
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Hesseling-Janssen, ALW
;
Mazurczak, T
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Mazurczak, T
;
Jozwiak, S
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Jozwiak, S
;
Fois, A
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Fois, A
;
Bartalini, G
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Bartalini, G
;
Zonnenberg, BA
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Zonnenberg, BA
;
van Essen, AJ
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
van Essen, AJ
;
Lindhout, D
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Lindhout, D
;
Halley, DJJ
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
Halley, DJJ
;
van den Ouweland, AMW
论文数:
0
引用数:
0
h-index:
0
机构:
Erasmus Univ, MGC Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
van den Ouweland, AMW
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1999,
64
(06)
:1632
-1637
←
1
→