A Fourth Example Suggests That Premature Termination Codons in the COL2A1 Gene Are a Common Cause of the Stickler Syndrome: Analysis of the COL2A1 Gene by Denaturing Gradient Gel Electrophoresis-Reference-Cited by-同舟云学术

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A Fourth Example Suggests That Premature Termination Codons in the COL2A1 Gene Are a Common Cause of the Stickler Syndrome: Analysis of the COL2A1 Gene by Denaturing Gradient Gel Electrophoresis

Published:1993-07 Issue:1 Volume:17 Page:218-221
ISSN:0888-7543
Container-title:Genomics
language:en
Short-container-title:Genomics

Author:

Ritvaniemi Pertti,Hyland James,Ignatius Jaakko,Kivirikko Kari I.,Prockop Darwin J.,Ala-Kokko Leena

Publisher

Elsevier BV

Subject

Genetics

Cited by 67 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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2. Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report;BMC Medical Genetics;2018-08-31

3. Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing;Experimental Eye Research;2018-06

4. Mutation Update forCOL2A1Gene Variants Associated with Type II Collagenopathies;Human Mutation;2015-10-21

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