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ALAS, our frailty is the cause … of a new for form of protoporphyria
Author(s) -
Brunham LR
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01139_1.x
Subject(s) - erythropoietic protoporphyria , genetics , gain of function , gene , loss function , medicine , mutation , biology , phenotype , protoporphyrin , biochemistry , porphyrin
C‐terminal deletions in the ALAS2 gene lead to gain of function and cause X‐linked dominant protoporphyria without anemia or iron overload
Whatley et al. (2008)
The American Journal of Human Genetics 83: 408–414