Work

Combination of a novel frameshift mutation (1929delCA) and a recurrent nonsense mutation (W610X) in exon 14 of the LAMB3 gene in herlitz junctional epidermolysis bullosa: Application for prenatal testing

Year: 1998

Type: article

Source: Journal of Dermatological Science

DOI: 10.1016/s0923-1811(98)83228-3

Authors: Yasuko Takizawa, Hiroshi Shimizu, Kaoru Suzumori, Leena Pulkkinen, Hiroaki Kakinuma, Jouni Uitto, Takeji Nishikawa

Institutions: Keio University, Nagoya City University, Nagoya University, Kanazawa Medical University

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

OpenAlex ID: W2024494293

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Related to: 10