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AnEcoRI RFLP in the 5′ region of the human NF1 gene

✍ Scribed by E. Reyniers; K. Boulle; D. A. Marchuk; L. B. Andersen; F. S. Collins; P. J. Willems


Publisher
Springer
Year
1993
Tongue
English
Weight
142 KB
Volume
92
Category
Article
ISSN
0340-6717

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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