Literature DB >> 7909533

An RsaI polymorphism in the transcribed region of the neurofibromatosis (NF1)-gene.

S Hoffmeyer1, G Assum.   

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Year:  1994        PMID： 7909533     DOI： 10.1007/bf00201684

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  4 in total

1.  A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

Authors:  R M Cawthon; R Weiss; G F Xu; D Viskochil; M Culver; J Stevens; M Robertson; D Dunn; R Gesteland; P O'Connell
Journal:  Cell       Date:  1990-07-13       Impact factor: 41.582

2.  Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

Authors:  D Viskochil; A M Buchberg; G Xu; R M Cawthon; J Stevens; R K Wolff; M Culver; J C Carey; N G Copeland; N A Jenkins
Journal:  Cell       Date:  1990-07-13       Impact factor: 41.582

3.  Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.

Authors:  M R Wallace; D A Marchuk; L B Andersen; R Letcher; H M Odeh; A M Saulino; J W Fountain; A Brereton; J Nicholson; A L Mitchell
Journal:  Science       Date:  1990-07-13       Impact factor: 47.728

4.  Analysis of segregation and expression of an identified mutation at the neurofibromatosis type 1 locus.

Authors:  M Stark; G Assum; D Kaufmann; H Kehrer; W Krone
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132
  4 in total
  13 in total

1.  A search for evidence of somatic mutations in the NF1 gene.

Authors:  A M John; M Ruggieri; R Ferner; M Upadhyaya
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

2.  Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus.

Authors:  S M Purandare; R Cawthon; L M Nelson; S Sawada; W S Watkins; K Ward; L B Jorde; D H Viskochil
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

Authors:  S Hoffmeyer; P Nürnberg; H Ritter; R Fahsold; W Leistner; D Kaufmann; W Krone
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

4.  Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.

Authors:  Corina Anastasaki; Albert S Woo; Ludwine M Messiaen; David H Gutmann
Journal:  Hum Mol Genet       Date:  2015-03-18       Impact factor: 6.150

5.  An isochore transition in the NF1 gene region coincides with a switch in the extent of linkage disequilibrium.

Authors:  I Eisenbarth; G Vogel; W Krone; W Vogel; G Assum
Journal:  Am J Hum Genet       Date:  2000-09-06       Impact factor: 11.025

6.  Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1.

Authors:  I Eisenbarth; K Beyer; W Krone; G Assum
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

7.  Somatic mosaicism in a patient with neurofibromatosis type 1.

Authors:  S D Colman; S A Rasmussen; V T Ho; C R Abernathy; M R Wallace
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

Review 8.  Molecular genetics of neurofibromatosis type 1 (NF1).

Authors:  M H Shen; P S Harper; M Upadhyaya
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

9.  Characterisation of germline mutations in the neurofibromatosis type 1 (NF1) gene.

Authors:  M Upadhyaya; J Maynard; M Osborn; S M Huson; M Ponder; B A Ponder; P S Harper
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

10.  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.

Authors:  R Fahsold; S Hoffmeyer; C Mischung; C Gille; C Ehlers; N Kücükceylan; M Abdel-Nour; A Gewies; H Peters; D Kaufmann; A Buske; S Tinschert; P Nürnberg
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025
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