De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy

Research output: Contribution to journalArticle

10 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)1341-1345
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number5
DOIs
StatePublished - 2014

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Mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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title = "De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy",
author = "Abhimanyu Garg and Chao Xing",
year = "2014",
doi = "10.1002/ajmg.a.36449",
language = "English (US)",
volume = "164",
pages = "1341--1345",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "5",

}

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AU - Garg, Abhimanyu

AU - Xing, Chao

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DO - 10.1002/ajmg.a.36449

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SP - 1341

EP - 1345

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 5

ER -