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A novel 19‐bp deletion of exon 15 in the HMBS gene causing acute intermittent porphyria associating with rhabdomyolysis during an acute attack
Author(s) -
Yrjönen A,
Pischik E,
Mehtälä S,
Kauppinen R
Publication year - 2008
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.1399-0004.2008.01061.x
Subject(s) - acute intermittent porphyria , medicine , rhabdomyolysis , abdominal pain , endocrinology , porphyria , antidiuretic , gastroenterology , vasopressin