Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene

American Journal of Human Genetics

Volumn 69, Issue 6, 2001, Pages 1395-1400

  Kaufmann, D ^a   Muller R ^a   Bartelt, B ^a   Wolf, M ^a   Kunzi Rapp, K ^a   Hanemann, C O ^a   Fahsold, R ^b   Hein, C ^a   Vogel, W ^a   Assum, G ^a  

^a UNIVERSITY OF ULM   (Germany)

^b Gemeinschaftspraxis B Prager and A Junge   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; LEUCINE; NEUROFIBROMIN; PROLINE; PROTEIN NF1; UNCLASSIFIED DRUG;

ARTICLE; CAFE AU LAIT SPOT; CLINICAL FEATURE; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC LINKAGE; HUMAN; MISSENSE MUTATION; NEUROFIBROMATOSIS; NULL CELL; PHENOTYPE; PRIORITY JOURNAL;

EID: 0035213283     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/324648     Document Type: Article

References (16)

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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
4. Ras-GTP regulation is not altered in cultured melanocytes with reduced levels of neurofibromin derived from patients with neurofibromatosis 1 (NF1)
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