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Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.
Metaphase
Performance of urine leukocyte esterase in asymptomatic male youth: another look with nucleic acid amplification testing as the gold standard for Chlamydia detection.
AAV2-mediated CLN2 gene transfer to rodent and non-human primate brain results in long-term TPP-I expression compatible with therapy for LINCL.
Familial cutaneous collagenoma.
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Familial cutaneous collagenoma.
Dawn ME, Deng AC, Petrali J, Wessely C, Jaffe D, Gaspari AA. Familial cutaneous collagenoma. Skinmed. 2008 Jan-Feb; 7(1):43-5.
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PubMed
subject areas
Adult
Age of Onset
Cardiovascular Diseases
Collagen Diseases
Female
Genes, Dominant
Humans
Skin Diseases
authors with profiles
April C Deng MD, PhD