Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
39386107 (PubMed )
Supplement: mmc2.xlsx › standard
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Exome sequencing in patients with chronic central serous chorioretinopathy.
Schellevis RL et al.
Scientific Reports, 2019
31036833 (PubMed )
Supplement: 41598_2019_43152_MOESM1_ESM.pdf
Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.
Takizawa Y et al.
The Journal of Investigative Dermatology, 1998
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