Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy-Reference-Cited by-同舟云学术

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy

Published:2019-12-19 Issue:3 Volume:182 Page:454-460
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Yamamoto Kenichi¹²^ORCID,Kubota Takuo¹,Takeyari Shinji¹^ORCID,Kitaoka Taichi¹,Miyata Kei¹,Nakano Yukako¹,Nakayama Hirofumi¹,Ohata Yasuhisa¹,Yanagi Kumiko³,Kaname Tadashi³^ORCID,Okada Yukinori²,Ozono Keiichi¹

Affiliation:

1. Department of PediatricsOsaka University Graduate School of Medicine Osaka Japan

2. Department of Statistical GeneticsOsaka University Graduate School of Medicine Osaka Japan

3. Department of Genome MedicineNational Center for Child Health and Development Tokyo Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61422

Reference36 articles.

1. Predicting functional effect of human missense mutations using PolyPhen‐2;Adzhubei I.;Current Protocols in Human Genetics,2013

2. Mutation Update forCOL2A1Gene Variants Associated with Type II Collagenopathies

3. A genomic view of mosaicism and human disease

4. Trimmomatic: a flexible trimmer for Illumina sequence data

5. Somatic mosaicism: implications for disease and transmission genetics

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