Complete Paternal Uniparental Isodisomy of Chromosome 1: A Novel Mechanism for Herlitz Junctional Epidermolysis Bullosa-Reference-Cited by-同舟云学术

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Complete Paternal Uniparental Isodisomy of Chromosome 1: A Novel Mechanism for Herlitz Junctional Epidermolysis Bullosa

Published:2000-08 Issue:2 Volume:115 Page:307-311
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Takizawa Yasuko,Pulkkinen Leena,Chao Sheau-Chiou,Nakajima Hiromichi,Nakano Yasushi,Shimizu Hiroshi,Uitto Jouni

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference21 articles.

1. Uniparental disomy revisited: the first twelve years;Engel;Am J Med Genet,1993

2. Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects;Field;Am J Hum Genet,1998

3. Epidermolysis bullosa;Fine,1999

4. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes;Floeth;Am J Hum Genet,1999

5. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis;Gelb;Am J Hum Genet,1998

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2. First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate;BMC Medical Genomics;2022-06-18

3. Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn;Acta Dermato Venereologica;2019

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