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Keywords: Mutation
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Journal Articles
Journal: Dermatology
Dermatology (2019) 235 (4): 263–275.
Published Online: 05 June 2019
... therapy with antihistamines, corticosteroids, and adrenaline, and instead need specific drugs targeting the kallikrein-kinin pathway. Classically, patients with HAE have a quantitative or qualitative deficiency of the C1 inhibitor (C1INH) due to different mutations in SERPING1 , although a new subtype...
Journal Articles
Journal: Dermatology
Dermatology (2018) 235 (1): 19–34.
Published Online: 17 October 2018
...Jean-Marie Tan; Lisa N. Tom; H. Peter Soyer; Mitchell S. Stark Melanocytic naevi are common melanocytic proliferations that may simulate the appearance of cutaneous melanoma. Naevi commonly harbour somatic mutations implicated in melanomagenesis but in most cases lack the necessary genomic...
Journal Articles
Journal: Dermatology
Dermatology (2015) 231 (1): 77–81.
Published Online: 30 May 2015
...-exome sequencing in family I were performed. Results: We identified a heterozygous one-base pair insertion, c.84_85insT (p. L28FfsX93) in PEN-2 , located within the linked region on chromosome 19. PCR-Sanger sequencing confirmed the identified mutation. The mutation segregated with the disease phenotype...
Journal Articles
Journal Articles
Journal Articles
Journal: Dermatology
Dermatologica (1972) 144 (3): 156–167.
Published Online: 16 October 2009
... of patients with familial occurrence suggest a dominant mode of inheritance; their family data do not deny the Goltz hypothesis that an excess number of females is due to genes which are lethal in males. New mutation should be present because selection was certainly present by the lack of offspring...
Journal Articles
Journal: Dermatology
Dermatologica (1975) 151 (3): 177–183.
Published Online: 15 October 2009
... expectancy Mutation Dermatologica 151: 177-183(1975) Ichthyosis hystrix of Porcupine M an Type Report of a Case J. C apetana kis, J. Stratigos, D. T sambaos, G. N icolis and L. Seitanidis Department of Dermatology, University of Athens, Athens Key Words. Ichthyosis hystrix Porcupine man Squamous...
Journal Articles
Journal: Dermatology
Dermatology (2009) 218 (2): 114–118.
Published Online: 13 November 2008
... degeneration. Most cases of EV are caused by mutations in the two EV genes, EVER1/TMC6 and EVER2/TMC8 . The clinical presentation of EV takes two different forms, which coexist in most cases. Over a period of years, patients develop plane warts and pityriasis versicolor-like lesions. Sixteen cases of EV in HIV...
Journal Articles
Journal: Dermatology
Dermatology (2003) 206 (4): 338–340.
Published Online: 13 June 2003
...Shigenori Muramatsu; Tami Kimura; Rie Ueki; Ryoji Tsuboi; Shigaku Ikeda; Hideoki Ogawa Monilethrix is an autosomal dominant hair disorder characterized by a beaded appearance of the hair due to periodic thinning of the shaft. This disorder has been reported to be caused by mutations in the helix...
Journal Articles
Journal Articles