Mutations of the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

被引:0
作者
Stromme, P
Mangelsdorf, ME
Shaw, MA
Lower, KM
Lewis, SMS
Bruyere, H
Lutcherath, V
Gedeon, AK
Wallace, RH
Scheffer, IE
Turner, G
Partington, M
Frints, S
Fryns, J
Sutherland, GR
Mulley, JC
Gecz, J
机构
[1] Womens & Childrens Hosp, Adelaide, SA, Australia
[2] Univ Adelaide, Adelaide, SA 5005, Australia
[3] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada
[4] Childrens & Womens Hlth Ctr British Columbia, Vancouver, BC, Canada
[5] Cent Hosp Rogaland, Stavanger, Norway
[6] Monash Med Ctr, Melbourne, Vic, Australia
[7] Royal Childrens Hosp, Melbourne, Vic, Australia
[8] Univ Newcastle, Waratah, Australia
[9] Hunter Genet, Waratah, Australia
[10] Katholieke Univ Leuven Hosp, Louvain, Belgium
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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页码:63 / 63
页数:1
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[21]   Nonsyndromic X-linked mental retardation: where are the missing mutations? [J].
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[22]   AGTR2 mutations in X-linked mental retardation [J].
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[24]   SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome [J].
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Eiklid, Kristin ;
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Whibley, Annabel ;
Stratton, Michael R. ;
Futreal, P. Andrew ;
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Edkins, Sarah ;
Gecz, Jozef ;
Turner, Gillian ;
Raymond, F. Lucy ;
Schwartz, Charles ;
Stevenson, Roger E. ;
Undlien, Dag E. ;
Stromme, Petter .
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[25]   Mutations in the polyglutamine-binding protein 1 gene cause X-linked mental retardation. [J].
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Freude, K ;
Jensen, LJ ;
Musante, L ;
Yntema, HG ;
Gécz, J ;
Sefiani, A ;
vanBokhoven, H ;
Turner, G ;
Chelly, J ;
Moraine, C ;
Fryns, JP ;
Nuber, U ;
Hoeltzenbein, M ;
Scharff, C ;
Scherthan, H ;
Lenzner, S ;
Hamel, B ;
Schweiger, S ;
Ropers, HH .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) :164-164
[26]   Mutations in the DLG3 gene cause non-syndromic X-linked mental retardation [J].
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Tarpey, P ;
Parnau, J ;
Blow, M ;
Bignell, G ;
Cox, J ;
Partington, M ;
Turner, G ;
Stevenson, R ;
Schwartz, C ;
Young, I ;
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Stratton, MR ;
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JOURNAL OF MEDICAL GENETICS, 2004, 41 :S18-S18
[27]   X-linked mental retardation and epigenetics [J].
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[28]   X-LINKED MENTAL-RETARDATION [J].
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[29]   X-LINKED MENTAL-RETARDATION [J].
TURNER, G ;
TURNER, B .
JOURNAL OF MEDICAL GENETICS, 1974, 11 (02) :109-113
[30]   X-LINKED MENTAL-RETARDATION [J].
BERRY, C .
ARCHIVES OF DISEASE IN CHILDHOOD, 1981, 56 (06) :410-411