Ontology highlight
ABSTRACT:
SUBMITTER: Duong NT
PROVIDER: S-EPMC9113988 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
Duong Nguyen Thuy NT Anh Luong Thi Lan LTL Sau Nguyen Huu NH Anh Nguyen Bao NB Miyake Noriko N Van Hai Nong N Matsumoto Naomichi N
Human genome variation 20220517 1
We present a homozygous missense mutation in the COL7A1 gene (NM_000094.4: c.6262G>A, p.G2088R) in a case of inversa recessive dystrophic epidermolysis bullosa (RDEB-I) from a nonconsanguineous Vietnamese family. Although a heterozygous form of this mutation in combination with a premature termination codon allele has been shown to cause RDEB-I, this is the first report of homozygosity of this mutation as the etiology. Here, we investigated the molecular basis of the patient's disease for prenat ...[more]