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pro vyhledávání: '"Raida W. Khalil"'
Publikováno v:
AIMS Molecular Science, Vol 8, Iss 1, Pp 60-75 (2021)
Alkaptonuria (AKU) is a rare metabolic disease which is inherited as an autosomal recessive trait. It is characterized by the accumulation of homogentisic acid over time in various tissues of the body particularly connective tissues. This genetic dis
Externí odkaz:
https://doaj.org/article/1702b8d5702145bc87b2f5dba370f1ee
Publikováno v:
The Australasian journal of dermatology. 54(3)
The Herlitz junctional epidermolysis bullosa (H-JEB) subtype usually presents as a severe lethal inherited variant of epidermolysis bullosa (EB) caused by a homozygous mutation in the genes LAMA3, LMAB3, or LAMAC3. Each gene encodes one of the three