A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis-Reference-Cited by-同舟云学术

A novel mutation in gelatinous drop-like corneal dystrophy and functional analysis

Published:2019-07-11 Issue:1 Volume:6 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Nagahara Yukiko,Tsujikawa Motokazu,Takigawa Toru,Xu Peng,Kai Chifune,Kawasaki Satoshi,Nakatsukasa Mina,Inatomi Tsutomu,Kinoshita Shigeru,Nishida Kohji

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-019-0060-z.pdf

Reference19 articles.

1. Fujiki, K., Nakayasu, K. & Kanai, A. Corneal dystrophies in Japan. J. Hum. Genet. 46, 431–435 (2001).

2. Tsujikawa, M. et al. Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p. Am. J. Hum. Genet. 63, 1073–1077 (1998).

3. Tsujikawa, M. et al. Identification of the gene responsible for gelatinous drop-like corneal dystrophy. Nat. Genet. 21, 420–423 (1999).

4. Malthiery, Y. & Lissitzky, S. Primary structure of human thyroglobulin deduced from the sequence of its 8448-base complementary DNA. Eur. J. Biochem. 165, 491–498 (1987).

5. Yoshida, S. et al. Two brothers with gelatinous drop-like corneal dystrophy at different stages of the disease: role of mutational analysis. Am. J. Ophthalmol. 133, 830–832 (2002).

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3. Gelatinous Drop-Like Corneal Dystrophy – 2 Clinical Cases;Klinische Monatsblätter für Augenheilkunde;2020-07

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