المؤلفون: Liu YL, Zhang ZYO, Chen XM

المصدر: Clinical, Cosmetic and Investigational Dermatology, Vol Volume 17, Pp 885-889 (2024)

مصطلحات موضوعية: proteinosis, lipoid, multigene panel testing, ecm1 gene, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.dovepress.com/a-sporadic-family-of-lipoid-proteinosis-with-novel-ecm1-gene-mutations-peer-reviewed-fulltext-article-CCID; https://doaj.org/toc/1178-7015

URL الوصول: https://doaj.org/article/312fa79b77604e87802995603cc2ad26

المؤلفون: Sahana M Srinivas, Madhuri Maganthi, Priya Jeevamani Chandrasekaran, Aruna Gowdra, Raghupathy Palany

المصدر: Indian Journal of Paediatric Dermatology, Vol 21, Iss 3, Pp 167-173 (2020)

مصطلحات موضوعية: autosomal recessive, ecm1 gene, lipoid proteinosis, novel mutation, Dermatology, RL1-803, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=3;spage=167;epage=173;aulast=Srinivas; https://doaj.org/toc/2319-7250

URL الوصول: https://doaj.org/article/75df6480ef8d4218878df51aa3d7083e

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المؤلفون: Wei Wu, Jian-Qiang Shi, Ding Li, Fang-Gu Li, Yan-Xia Cai, Di-Qing Luo

المصدر: Dermatologica Sinica, Vol 37, Iss 2, Pp 82-85 (2019)

مصطلحات موضوعية: Chinese, ECM1 gene, genodermatoses, lipoid proteinosis, mutation, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: http://www.dermsinica.org/article.asp?issn=1027-8117;year=2019;volume=37;issue=2;spage=82;epage=85;aulast=Wu; https://doaj.org/toc/1027-8117; https://doaj.org/toc/2223-330X

URL الوصول: https://doaj.org/article/ca24c4cf22db44bc9ecfe759b2986f10

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المؤلفون: Alka Tripathi, Sunil Gupta

المصدر: Cureus

مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Abrasion (medical), Hyperkeratosis, Dermatology, moniliform blepharosis, seborrheic dermatitis, Pathognomonic, ecm1 gene, Seborrheic dermatitis, pathognomonic, medicine, lipoid proteinosis (lp), Outpatient clinic, skin and connective tissue diseases, business.industry, General Engineering, Verrucous Lesion, medicine.disease, eye diseases, Ophthalmology, Artificial tears, Itching, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8a4615ccbcedcbb51a9ca6c7d2287f5
https://doi.org/10.7759/cureus.15617

المؤلفون: Francisca Solano, García-Moreno Jm, Amalia Martinez-Mir, Miguel Lucas, Rocio Rubio, Rufino Mondejar, Juan J. Ríos-Martín, Mercedes Delgado, Begona Garcia-Bravo

المساهمون: Junta de Andalucía, Ministerio de Ciencia e Innovación (España)

المصدر: Journal of Clinical Neurology (Seoul, Korea)
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Genetics, education.field_of_study, Pathology, medicine.medical_specialty, business.industry, phenotype, Case Report, Phenotype, lipoid proteinosis, exon 7, ECM1 gene, Extracellular matrix protein 1, Lipoid proteinosis, Neurology, Mutation (genetic algorithm), Mutation, Exon 7, Medicine, Neurology (clinical), mutation, business, education, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a519061dcd54d2a58455246dc529d2f
http://europepmc.org/articles/PMC3896652

المؤلفون: Fang-Gu Li, Di-Qing Luo, Ding Li, Jian-Qiang Shi, Yan-Xia Cai, Wei Wu

المصدر: Dermatologica Sinica, Vol 37, Iss 2, Pp 82-85 (2019)

مصطلحات موضوعية: Genetics, Mutation, Chinese, business.industry, media_common.quotation_subject, Nonsense mutation, Nonsense, Genodermatosis, Dermatology, lcsh:RL1-803, Compound heterozygosity, medicine.disease, medicine.disease_cause, lipoid proteinosis, ECM1 gene, genodermatoses, Exon, lcsh:Dermatology, Medicine, Missense mutation, mutation, business, Gene, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad69fa42305dea7d2dbc27077f677bc3
https://doi.org/10.4103/ds.ds_23_18

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المؤلفون: Maurizio Averna, Vincenza Valenti, Davide Noto, Ornella Daniele, Rosolino Camarda, Maria Rita Bongiorno, Giovanni Savettieri, Angelo B. Cefalù, Lupo I, Mario Arico

المساهمون: LUPO, I, CEFALU', AB, BONGIORNO, MR, DANIELE, O, VALENTI, V, NOTO, D, CAMARDA, R, SAVETTIERI, G, ARICO', M, AVERNA M

المصدر: British Journal of Dermatology. 153:1019-1022

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Settore MED/09 - Medicina Interna, Biopsy, Molecular Sequence Data, Nonsense mutation, Dermatology, Biology, Urbach–Wiethe disease, medicine.disease_cause, Polymerase Chain Reaction, Frameshift mutation, Extracellular matrix protein 1, Exon, medicine, Humans, education, Sicily, Gene, Extracellular Matrix Proteins, education.field_of_study, Mutation, Base Sequence, Genodermatosis, Skin Diseases, Genetic, medicine.disease, Pedigree, ECM1 gene, lipoid proteinosis, mutation, Settore MED/03 - Genetica Medica, Codon, Nonsense, Lipoid Proteinosis of Urbach and Wiethe, Settore MED/26 - Neurologia, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ca7c7e680ae51aad706faa9ba3a1949
https://doi.org/10.1111/j.1365-2133.2005.06842.x