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A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activating protein activity.

Andersen LB, Ballester R, Marchuk DA, Chang E, Gutmann DH, Saulino AM, Camonis J, Wigler M, Collins FS.

Mol Cell Biol. 1993 Jan;13(1):487-95.


cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product.

Marchuk DA, Saulino AM, Tavakkol R, Swaroop M, Wallace MR, Andersen LB, Mitchell AL, Gutmann DH, Boguski M, Collins FS.

Genomics. 1991 Dec;11(4):931-40.


A de novo Alu insertion results in neurofibromatosis type 1.

Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS.

Nature. 1991 Oct 31;353(6347):864-6.


A highly polymorphic cDNA probe in the NF1 gene.

Andersen LB, Wallace MR, Marchuk DA, Tavakkol R, Mitchell A, Saulino AM, Collins FS.

Nucleic Acids Res. 1991 Jul 11;19(13):3754. No abstract available.


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

Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, et al.

Science. 1990 Jul 13;249(4965):181-6. Erratum in: Science 1990 Dec 21;250(4988):1749.


The -175T----C mutation increases promoter strength in erythroid cells: correlation with evolutionary conservation of binding sites for two trans-acting factors.

Gumucio DL, Lockwood WK, Weber JL, Saulino AM, Delgrosso K, Surrey S, Schwartz E, Goodman M, Collins FS.

Blood. 1990 Feb 1;75(3):756-61.

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