Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 Gene-Reference-Cited by-同舟云学术

Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 Gene

Published:2001-12 Issue:6 Volume:69 Page:1395-1400
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kaufmann Dieter,Müller Ralf,Bartelt Britta,Wolf Michael,Kunzi-Rapp Karin,Hanemann Clemens Oliver,Fahsold Raimund,Hein Christian,Vogel Walther,Assum Günter

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

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2. Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1;Eisenbarth;Am J Hum Genet,2000

3. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain;Fahsold;Am J Hum Genet,2000

4. Ras-GTP regulation is not altered in cultured melanocytes with reduced levels of neurofibromin derived from patients with neurofibromatosis 1 (NF1);Griesser;Biol Chem Hoppe Seyler,1995

5. Post-transcriptional regulation of neurofibromin level in cultured human melanocytes in response to growth factors;Griesser;J Invest Dermatol,1997

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