MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1-Reference-Cited by-同舟云学术

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1

Published:2017-07-25 Issue:9 Volume:173 Page:2415-2421
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Balasubramanian Karthika¹,Li Bing¹,Krakow Deborah²³⁴^ORCID,Nevarez Lisette¹,Ho Patric J.¹,Ainsworth Julia A.¹,Nickerson Deborah A.⁵,Bamshad Michael J.⁵⁶,Immken LaDonna⁷,Lachman Ralph S.⁴,Cohn Daniel H.¹²⁴^ORCID

Affiliation:

1. Department of Molecular; Cell and Developmental Biology; University of California Los Angeles; Los Angeles California

2. Department of Orthopaedic Surgery; University of California Los Angeles; Los Angeles California

3. Department of Human Genetics; University of California Los Angeles; Los Angeles California

4. International Skeletal Dysplasia Registry; University of California Los Angeles; Los Angeles California

5. Department of Genome Sciences; University of Washington; Seattle Washington

6. Department of Pediatrics; University of Washington; Seattle Washington

7. Specially For Children Genetics; Austin Texas

Funder

Joseph Drown Foundation

National Human Genome Research Institute

March of Dimes Foundation

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010

2. Combined role of type IX collagen and cartilage oligomeric matrix protein in cartilage matrix assembly: Cartilage oligomeric matrix protein counteracts type IX collagen-induced limitation of cartilage collagen fibril growth in mouse chondrocyte cultures;Blumbach;Arthritis & Rheumatism,2009

3. Ablation of collagen IX and COMP disrupts epiphyseal cartilage architecture;Blumbach;Matrix Biology,2008

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