Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1

Abstract A disintegrin and metalloprotease 17 (ADAM17) is the major sheddase that processes more than 80 substrates, including tumour necrosis factor-α (TNFα). The homozygous genetic deficiency of ADAM17 causing a complete loss of ADAM17 expression was reported to be linked to neonatal inflammatory...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Issei Imoto, Masako Saito, Kenichi Suga, Tomohiro Kohmoto, Masanobu Otsu, Keisuke Horiuchi, Hironao Nakayama, Shigeki Higashiyama, Mayumi Sugimoto, Ayumi Sasaki, Yukako Homma, Miki Shono, Ryuji Nakagawa, Yasunobu Hayabuchi, Shoichiro Tange, Shoji Kagami, Kiyoshi Masuda
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/f54d298d87a549a0b4eef6bb10764fdc
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

Sea el primero en dejar un comentario!

Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1

Ejemplares similares