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A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa

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Year: 1994
Type: article
Source: Human Molecular Genetics
DOI: 10.1093/hmg/3.10.1909
Authors: Christian Baudoin, Corinne Miquel, Laurent Gagnoux-Palacios, Leena Pulkkinen, Angela M. Christiano, Jouni Uitto, Gianluca Tadini, Jean-Paul Ortonne, Guerrino Meneguzzl
Institutions: Inserm, Thomas Jefferson University, University of Milan, Hôpital Pasteur
Language: English

Topic: Skin and Cellular Biology Research
Subfield: Cell Biology
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: closed

Funder: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Awards: G1991966960, Program Project Grant
OpenAlex ID: W2090853005
FWCI: 1.385
Cites:
Cited by: 31
Related to: 10
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