PMP22 Thr(118)Met: Recessive CMT1 mutation or polymorphism?

被引：35

作者：

Nelis, E

Holmberg, B

Adolfsson, R

Holmgren, G

Van Broeckhoven, C

机构：

[1] UNIV ANTWERP, DEPT BIOCHEM, NEUROGENET LAB, B-2610 ANTWERP, BELGIUM

[2] UNIV ANTWERP VIB, BORN BUNGE FDN, B-2020 ANTWERP, BELGIUM

[3] UMEA UNIV HOSP, DEPT NEUROL, S-90185 UMEA, SWEDEN

[4] HARNOSAND HOSP, DEPT INTERNAL MED, HARNOSAND, SWEDEN

[5] UMEA UNIV, DEPT PSYCHIAT, UMEA, SWEDEN

来源：

NATURE GENETICS | 1997年 / 15卷 / 01期

关键词：

D O I：

10.1038/ng0197-13

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：13 / 14

页数：2

共 17 条

[1]

Bathke K. D., 1996, American Journal of Human Genetics, V59, pA248

[2]

Dyck PJ, 1994, PERIPHERAL NEUROPATH, P1094

[3]

FABRETTI E, 1995, GENE DEV, V9, P1846

[4] CHARCOT-MARIE-TOOTH DISEASE IN NORTHERN SWEDEN - PEDIGREE ANALYSIS AND THE PRESENCE OF THE DUPLICATION IN CHROMOSOME 17P11.2 [J].

HOLMBERG, BH ;

HOLMGREN, G ;

NELIS, E ;

VAN BROECKHOVEN, C ;

WESTERBERG, B .

JOURNAL OF MEDICAL GENETICS, 1994, 31 (06) :435-441

[5]

HOLMBERG BH, 1993, ACTA NEUROL SCAND, V87, P416

[6] DIGENIC RETINITIS-PIGMENTOSA DUE TO MUTATIONS AT THE UNLINKED PERIPHERIN/RDS AND ROM1 LOCI [J].

KAJIWARA, K ;

BERSON, EL ;

DRYJA, TP .

SCIENCE, 1994, 264 (5165) :1604-1608

[7] A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease [J].

Navon, R ;

Seifried, B ;

GalOn, NS ;

Sadeh, M .

HUMAN GENETICS, 1996, 97 (05) :685-687

[8]

Nelis E, 1996, EUR J HUM GENET, V4, P25

[9]

NELIS E, 1994, HUM MOL GENET, V3, P515

[10]

NELIS E, IN PRESS EUR J HUM G

← 1 2 →