The first Noonan syndrome gene:: PTPN11, which encodes the protein tyrosine phosphatase SHP-2

被引：6

作者：

Allanson, J ^{[1
]}

机构：

[1] Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada

来源：

PEDIATRIC RESEARCH | 2002年 / 52卷 / 04期

关键词：

D O I：

10.1203/01.PDR.0000035197.12622.58

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：471 / 471

页数：1

共 5 条

[1] NOONAN SYNDROME [J].

ALLANSON, JE .

JOURNAL OF MEDICAL GENETICS, 1987, 24 (01) :9-13

[2]

ALLANSON JE, 2001, MANAGEMENT GENETIC S, P253

[3] MAPPING A GENE FOR NOONAN-SYNDROME TO THE LONG ARM OF CHROMOSOME-12 [J].

JAMIESON, CR ;

VANDERBURGT, I ;

BRADY, AF ;

VANREEN, M ;

ELSAWI, MM ;

HOL, F ;

JEFFERY, S ;

PATTON, MA ;

MARIMAN, E .

NATURE GENETICS, 1994, 8 (04) :357-360

[4]

TARGAGLIA M, 2002, AM J HUM GENET, V70, P1555

[5] Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome [J].

Tartaglia, M ;

Mehler, EL ;

Goldberg, R ;

Zampino, G ;

Brunner, HG ;

Kremer, H ;

van der Burgt, I ;

Crosby, AH ;

Ion, A ;

Jeffery, S ;

Kalidas, K ;

Patton, MA ;

Kucherlapati, RS ;

Gelb, BD .

NATURE GENETICS, 2001, 29 (04) :465-468

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