Nail that mutation - Keratin 17 defect in late-onset pachyonychia

被引：9

作者：

Smith, FJD ^{[1
]}

机构：

[1] Univ Dundee, Human Genet Unit, Epithelial Genet Grp, Dundee, Scotland

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2004年 / 122卷 / 04期

关键词：

D O I：

10.1111/j.0022-202X.2004.22437.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：X / XI

页数：2

共 10 条

[1] MUTATION OF A TYPE-II KERATIN GENE (K6A) IN PACHYONYCHIA-CONGENITA [J].

BOWDEN, PE ;

HALEY, JL ;

KANSKY, A ;

ROTHNAGEL, JA ;

JONES, DO ;

TURNER, RJ .

NATURE GENETICS, 1995, 10 (03) :363-365

[2] Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16 [J].

Connors, JB ;

Rahil, AK ;

Smith, FJD ;

McLean, WHI ;

Milstone, LM .

BRITISH JOURNAL OF DERMATOLOGY, 2001, 144 (05) :1058-1062

[3] Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts [J].

Feng, YG ;

Xiao, SX ;

Ren, XR ;

Wang, WQ ;

Liu, A ;

Pan, M .

BRITISH JOURNAL OF DERMATOLOGY, 2003, 148 (03) :452-455

[4]

Hannaford R S, 2000, Australas J Dermatol, V41, P175, DOI 10.1046/j.1440-0960.2000.00425.x

[5] KERATIN-16 AND KERATIN-17 MUTATIONS CAUSE PACHYONYCHIA-CONGENITA [J].

MCLEAN, WHI ;

RUGG, EL ;

LUNNY, DP ;

MORLEY, SM ;

LANE, EB ;

SWENSSON, O ;

DOPPINGHEPENSTAL, PJC ;

GRIFFITHS, WAD ;

EADY, RAJ ;

HIGGINS, C ;

NAVSARIA, HA ;

LEIGH, IM ;

STRACHAN, T ;

KUNKELER, L ;

MUNRO, CS .

NATURE GENETICS, 1995, 9 (03) :273-278

[6] PACHYONYCHIA-CONGENITA-TARDA - A LATE-ONSET FORM OF PACHYONYCHIA-CONGENITA [J].

PALLER, AS ;

MOORE, JA ;

SCHER, R .

ARCHIVES OF DERMATOLOGY, 1991, 127 (05) :701-703

[7] The molecular genetics of keratin disorders [J].

Smith, FJD .

AMERICAN JOURNAL OF CLINICAL DERMATOLOGY, 2003, 4 (05) :347-364

[8] A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2 [J].

Smith, FJD ;

Jonkman, MF ;

van Goor, H ;

Coleman, CM ;

Covello, SP ;

Uitto, J ;

McLean, WHI .

HUMAN MOLECULAR GENETICS, 1998, 7 (07) :1143-1148

[9] Clouston syndrome can mimic pachyonychia congenita [J].

van Steensel, MAM ;

Jonkman, MF ;

van Geel, M ;

Steijlen, PM ;

McLean, WHI ;

Smith, FJD .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 121 (05) :1035-1038

[10] A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2 [J].

Xiao, SX ;

Feng, YG ;

Ren, XR ;

Tan, SS ;

Li, L ;

Wang, JM ;

Shi, YZ .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 122 (04) :892-895

← 1 →