Literature DB >> 8664902

A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.

J McGrory1, T Costa, W G Cole.   

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Year:  1996        PMID： 8664902     DOI： 10.1002/(SICI)1098-1004(1996)7:1<59::AID-HUMU8>3.0.CO;2-K

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  1 in total

1.  Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.

Authors:  Gillian Morven Belbin; Jacqueline Odgis; Elena P Sorokin; Muh-Ching Yee; Sumita Kohli; Benjamin S Glicksberg; Christopher R Gignoux; Genevieve L Wojcik; Tielman Van Vleck; Janina M Jeff; Michael Linderman; Claudia Schurmann; Douglas Ruderfer; Xiaoqiang Cai; Amanda Merkelson; Anne E Justice; Kristin L Young; Misa Graff; Kari E North; Ulrike Peters; Regina James; Lucia Hindorff; Ruth Kornreich; Lisa Edelmann; Omri Gottesman; Eli Ea Stahl; Judy H Cho; Ruth Jf Loos; Erwin P Bottinger; Girish N Nadkarni; Noura S Abul-Husn; Eimear E Kenny
Journal:  Elife       Date:  2017-09-12       Impact factor: 8.140
  1 in total

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