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DNA Sequences in the Promoter Region of the NF1 Gene Are Highly Conserved between Human and Mouse

✍ Scribed by Amitav Hajra; Antonia Martin-Gallardo; Susan A. Tarlé; Matthew Freedman; Susan Wilson-Gunn; Andre Bernards; Francis S. Collins

Book ID: 115612184
Publisher: Elsevier Science
Year: 1994
Tongue: English
Weight: 283 KB
Volume: 21
Category: Article
ISSN: 0888-7543
DOI: 10.1006/geno.1994.1328

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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