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Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non‐Herlitz junctional epidermolysis bullosa in two paternal half‐brothers from Saudi Arabia
Author(s) -
AlZahrani Hams S.,
AlTala Saeed,
Mohamoud Hussein S. A.,
AlShehri Bandar A.,
AlFadhel Saeed,
AlQurashi Ali,
AlBishri Ahmad,
AlAama Jumana Y.,
Kang Changsoo,
Betz Regina C.,
Jelani Musharraf
Publication year - 2019
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12294
Subject(s) - nonsense mutation , genetics , missense mutation , gene , nonsense , mutation , biology , junctional epidermolysis bullosa (veterinary medicine) , insertion , table (database) , computer science , database