A molecular view of the neurologic porphyrias.

Abstract:

:At the present time, the use of molecular techniques for diagnosing the neurologic porphyrias is limited mainly to those laboratories doing research in the area. Because any of four genes may be involved, it is important to confirm the diagnosis in the index case before undertaking molecular investigation. With advances in methodology, it may eventually become possible to test for the many mutations that cause these disorders in a simple, cost-effective manner.

journal_name

Clin Lab Med

authors

Schreiber WE

subject

Has Abstract

pub_date

1997-03-01 00:00:00

pages

73-83

issue

1

eissn

0272-2712

issn

1557-9832

journal_volume

17

pub_type

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