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Complete Characterization of the 3′ Region of the Human and Mouse Hereditary Hemochromatosis HFE Gene and Detection of Novel Splicing Forms

✍ Scribed by Mayka Sánchez; Miquel Bruguera; Joan Rodés; Rafael Oliva


Book ID
115590077
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
831 KB
Volume
27
Category
Article
ISSN
1079-9796

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## Abstract Duplicon‐mediated microdeletions around the __NF1__ gene are frequently associated with a severe form of neurofibromatosis type I in a subgroup of patients who show an earlier onset of cutaneous neurofibromas, dysmorphic facial features, and lower IQ values. To clarify the discrepancies