Open AccessApparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing
Author(s) -
S. A. Uddin,
Nicole Cesarato,
Aytaj Humbatova,
Axel Schmidt,
Fazal ur-Rehman,
Muhammad Naeem,
Abdul Samad Tareen,
Sabrina Wolf,
Muhammad Anwar Panezai,
Holger Thiele,
Abdul Wali,
Regina FölsterHolst,
Sulman Basit,
Muhammad Ayub,
Regina C. Betz
Publication year - 2020
Publication title -
acta dermato-venereologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.982
H-Index - 83
eISSN - 1651-2057
pISSN - 0001-5555
DOI - 10.2340/00015555-3634
Subject(s) - missense mutation , genetics , exome sequencing , epidermolysis bullosa , rna splicing , sanger sequencing , exome , biology , consanguinity , splice site mutation , mutation , dermatology , medicine , gene , rna