Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline-Reference-Cited by-同舟云学术

Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline

Published:2022-10-05 Issue: Volume: Page:
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Geng Chang^ORCID,Zhang Ciliu,Li Pidong,Tong Yuanren,Zhu Baosheng^ORCID,He Jing,Zhao Yanhuan,Yao Fengxia,Cui Li-Ying,Liang Fan^ORCID,Wang Yang,Wang Yaru,Jin Hongshuai,Lang Dandan,Liu Shanlin,Wang Depeng,Park Min S.,Chen Lin,Peng Jing^ORCID,Dai Yi^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-022-01190-y.pdf

Reference30 articles.

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4. Aartsma‐Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJB, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule. Muscle Nerve: Off J Am Assoc Electrodiagn Med. 2006;34:135–44.

5. Rybakova IN, Patel JR, Ervasti JM. The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin. J Cell Biol. 2000;150:1209–14.

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