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Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis.
Pietrusinski, M; Stanczyk-Przyluska, A; Chlebna-Sokól, D; Borkowska, E; Kaluzewski, B; Borowiec, M.
Affiliation
  • Pietrusinski M; Department of Clinical Genetics, Pomorska, Lodz, Poland. michal.pietrusinski@umed.lodz.pl.
  • Stanczyk-Przyluska A; Department of Pediatrics, Preventive Cardiology and Immunology, Pomorska, Lodz, Poland.
  • Chlebna-Sokól D; Department of Pediatric Propedeutics and Bone Metabolism Disease, Pomorska, Lodz, Poland.
  • Borkowska E; Department of Clinical Genetics, Pomorska, Lodz, Poland.
  • Kaluzewski B; Department of Clinical Genetics, Pomorska, Lodz, Poland.
  • Borowiec M; Department of Clinical Genetics, Pomorska, Lodz, Poland.
Clin Exp Dermatol ; 40(8): 921-3, 2015 Dec.
Article in En | MEDLINE | ID: mdl-25250916
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transglutaminases / Ichthyosis, Lamellar / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Newborn Language: En Journal: Clin Exp Dermatol Year: 2015 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transglutaminases / Ichthyosis, Lamellar / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Newborn Language: En Journal: Clin Exp Dermatol Year: 2015 Document type: Article Affiliation country: