Kategorie:
PubID
Gen
MIM
15303011 The third case of Doss porphyria (delta-aminolevulinic acid dehydratase deficiency) in Germany.
ALAD
18760763 C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
ALAS2
11309681 Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria
CPOX
17875872 Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.
FECH
15534187 Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
HMBS
9003509 Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene.
PPOX
19419417 Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives.
UROD
11254675 Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.
UROS