Lipoid proteinosis presenting with an unusual nonsense Q32X mutation in exon 2 of the extracellular matrix protein 1 gene

2011 ◽  
Vol 53 (4) ◽  
pp. e79-e82 ◽  
Author(s):  
H Thamizh Chelvan ◽  
Malathi Narasimhan ◽  
Anandhan Shankaran Subramanian ◽  
Shobhana Subramaniam
Keyword(s):  
Extracellular Matrix ◽  
Matrix Protein ◽  
Extracellular Matrix Protein ◽  
Exon 2 ◽  
Lipoid Proteinosis ◽  
Extracellular Matrix Protein 1

scholarly journals Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis

2016 ◽  
Vol 143 (3) ◽  
pp. 303 ◽  
Author(s):  
Frouzandeh Mahjoubi ◽  
Farzad Izadi ◽  
Mohammad Farhadi ◽  
Samira Kalayinia ◽  
Ali Bidmeshkipour ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Matrix Protein ◽  
Extracellular Matrix Protein ◽  
Lipoid Proteinosis ◽  
Extracellular Matrix Protein 1

scholarly journals The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1

2007 ◽  
Vol 16 (11) ◽  
pp. 881-890 ◽  
Author(s):  
Ien Chan ◽  
Lu Liu ◽  
Takahiro Hamada ◽  
Gomathy Sethuraman ◽  
John A. McGrath
Keyword(s):  
Extracellular Matrix ◽  
Molecular Basis ◽  
Matrix Protein ◽  
Extracellular Matrix Protein ◽  
Lipoid Proteinosis ◽  
Extracellular Matrix Protein 1

scholarly journals Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis

2014 ◽  
Vol 10 (1) ◽  
pp. 64 ◽  
Author(s):  
Rufino Mondejar ◽  
Jose Manuel Garcia-Moreno ◽  
Rocio Rubio ◽  
Francisca Solano ◽  
Mercedes Delgado ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Matrix Protein ◽  
Molecular Study ◽  
Extracellular Matrix Protein ◽  
Lipoid Proteinosis ◽  
Extracellular Matrix Protein 1 ◽  
Spanish Family

Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody

2004 ◽  
Vol 35 (2) ◽  
pp. 151-153 ◽  
Author(s):  
Ien Chan ◽  
Noritaka Oyama ◽  
Andrew P South ◽  
Takahiro Hamada ◽  
Balbir S Bhogal ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Matrix Protein ◽  
Rapid Diagnosis ◽  
Extracellular Matrix Protein ◽  
Lipoid Proteinosis ◽  
Extracellular Matrix Protein 1

scholarly journals N-Glycosylation of extracellular matrix protein 1 (ECM1) regulates its secretion, which is unrelated to lipoid proteinosis

FEBS Open Bio ◽  
2014 ◽  
Vol 4 (1) ◽  
pp. 879-885 ◽  
Author(s):  
Shiho Uematsu ◽  
Yuki Goto ◽  
Takehiro Suzuki ◽  
Yukiko Sasazawa ◽  
Naoshi Dohmae ◽  
...  
Keyword(s):  
Extracellular Matrix ◽  
Matrix Protein ◽  
Extracellular Matrix Protein ◽  
Lipoid Proteinosis ◽  
Extracellular Matrix Protein 1
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