New compound heterozygous mutations in a Chinese family with lipoid proteinosis

被引：17
作者：
Wang, C. Y.
Zhang, P. Z.
Zhang, F. R.
Liu, J.
Tian, H. Q.
Yu, L.
机构：
[1] Shandong Prov Inst Dermatol & Venereol, Jinan, Peoples R China
[2] Fudan Univ, State Key Lab Genet Engn, Shanghai 200433, Peoples R China
来源：
BRITISH JOURNAL OF DERMATOLOGY | 2006年 / 155卷 / 02期
关键词：
lipoid proteinosis; ECMI gene; compound heterozygous mutations;
D O I：
10.1111/j.1365-2133.2006.07292.x
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
[No abstract available]
引用
收藏
页码：470 / 472
页数：3
相关论文
共 8 条
[1]   Molecular basis of lipoid proteinosis in two Indian siblings [J].
Chan, I ;
Sethuraman, G ;
Sharma, VK ;
Bruning, E ;
Hamada, T ;
McGrath, JA .
JOURNAL OF DERMATOLOGY, 2004, 31 (09) :764-766
[2]   An Indian child with lipoid proteinosis resulting from a recurrent frameshift mutation (507delT) in the extracellular matrix protein 1 gene [J].
Chan, I ;
Bingewar, G ;
Patil, K ;
Nayak, C ;
Wadhwa, SL ;
McGrath, JA .
BRITISH JOURNAL OF DERMATOLOGY, 2004, 151 (03) :726-727
[3]   Molecular basis of lipoid proteinosis in a Libyan family [J].
Chan, I ;
El-Zurghany, A ;
Zendah, B ;
Benghazil, M ;
Oyama, N ;
Hamada, T ;
McGrath, JA .
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2003, 28 (05) :545-548
[4]   Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation [J].
Hamada, T ;
Wessagowit, V ;
South, AP ;
Ashton, GHS ;
Chan, I ;
Oyama, N ;
Siriwattana, A ;
Jewhasuchin, P ;
Charuwichitratana, S ;
Thappa, DM ;
Lenane, P ;
Krafchik, B ;
Kulthanan, K ;
Shimizu, H ;
Kaya, TI ;
Erdal, ME ;
Paradisi, M ;
Paller, AS ;
Seishima, M ;
Hashimoto, T ;
McGrath, AA .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2003, 120 (03) :345-350
[5]   Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1) [J].
Hamada, T ;
McLean, WHI ;
Ramsay, M ;
Ashton, GHS ;
Nanda, A ;
Jenkins, T ;
Edelstein, I ;
South, AP ;
Bleck, O ;
Wessagowit, V ;
Mallipeddi, R ;
Orchard, GE ;
Wan, H ;
Dopping-Hepenstal, PJC ;
Mellerio, JE ;
Whittock, NV ;
Munro, CS ;
van Steensel, MAM ;
Steijlen, PM ;
Ni, J ;
Zhang, LR ;
Hashimoto, T ;
Eady, RAJ ;
McGrath, JA .
HUMAN MOLECULAR GENETICS, 2002, 11 (07) :833-840
[6]   Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis [J].
Mongiat, M ;
Fu, J ;
Oldershaw, R ;
Greenhalgh, R ;
Gown, AM ;
Iozzo, RV .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (19) :17491-17499
[7]   The human extracellular matrix gene 1 (ECM1): Genomic structure, cDNA cloning, expression pattern, and chromosomal localization [J].
Smits, P ;
Ni, J ;
Feng, P ;
Wauters, J ;
VanHul, W ;
ElBoutaibi, M ;
Dillon, PJ ;
Merregaert, J .
GENOMICS, 1997, 45 (03) :487-495
[8]   Generalized dystonia and striatal calcifications with lipoid proteinosis [J].
Teive, HAG ;
Pereira, ER ;
Zavala, JAA ;
Lange, MC ;
de Paola, L ;
Raskin, S ;
Werneck, LC ;
Hamada, T ;
McGrath, JA .
NEUROLOGY, 2004, 63 (11) :2168-2169
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