F8 c.353del ;(p.H118Lfs*43)

Variant ID: X-154225283-AT-A

NM_000132.3(F8):c.353del;(p.H118Lfs*43)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

American Journal Of Human Genetics
Nakajima, Masahiro M; Mizumoto, Shuji S; Miyake, Noriko N; Kogawa, Ryo R; Iida, Aritoshi A; Ito, Hironori H; Kitoh, Hiroshi H; Hirayama, Aya A; Mitsubuchi, Hiroshi H; Miyazaki, Osamu O; Kosaki, Rika R; Horikawa, Reiko R; Lai, Angeline A; Mendoza-Londono, Roberto R; Dupuis, Lucie L; Chitayat, David D; Howard, Andrew A; Leal, Gabriela F GF; Cavalcanti, Denise D; Tsurusaki, Yoshinori Y; Saitsu, Hirotomo H; Watanabe, Shigehiko S; Lausch, Ekkehart E; Unger, Sheila S; Bonafé, Luisa L; Ohashi, Hirofumi H; Superti-Furga, Andrea A; Matsumoto, Naomichi N; Sugahara, Kazuyuki K; Nishimura, Gen G; Ikegawa, Shiro S
Publication Date: 2013-06-06

Variant appearance in text: F8: 353delA
PubMed Link: 23664117
Variant Present in the following documents:
  • Main text
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