1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family

被引：25

作者：

Lower, KM

Solders, G

Bondeson, ML

Nelson, J

Brun, A

Crawford, J

Malm, G

Börjeson, M

Turner, G

Partington, M

Gécz, J

机构：

[1] Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5006, Australia

[2] Univ Adelaide, Dept Paediat, Adelaide, SA, Australia

[3] Karolinska Univ Hosp, Dept Neurol, Huddinge, Sweden

[4] Uppsala Univ, Dept Genet & Pathol, Uppsala, Sweden

[5] King Edward Mem Hosp, Genet Serv Western Australia, Perth, WA, Australia

[6] Univ Hosp, Dept Pathol, Lund, Sweden

[7] Karolinska Univ Hosp, Dept Paediat, Huddinge, Sweden

[8] Hunter Genet, Newcastle, NSW, Australia

[9] Univ Newcastle, Newcastle, NSW 2308, Australia

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2004年 / 12卷 / 10期

关键词：

D O I：

10.1038/sj.ejhg.5201228

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：

引用

页码：787 / 789

页数：3

共 8 条

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1024C&gt;T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family

1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family