Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

F Rouan; L Pulkkinen; M F Jonkman; Johann Bauer; P B Cserhalmi-Friedman; A M Christiano; J Uitto

doi:10.1046/j.1523-1747.1998.00422.x

Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

F Rouan, L Pulkkinen, M F Jonkman, Johann Bauer (Co-author), P B Cserhalmi-Friedman, A M Christiano, J Uitto

Department of Dermatology and Allergology

Research output: Contribution to journal › Original Article (Journal) › peer-review

26 Citations (Web of Science)

Original language	English
Pages (from-to)	1210-1213
Journal	JOURNAL OF INVESTIGATIVE DERMATOLOGY
Volume	111
Issue number	6
DOIs	https://doi.org/10.1046/j.1523-1747.1998.00422.x
Publication status	Published - 1998

Keywords

TO-ARGININE SUBSTITUTION
IDENTIFICATION
VARIANTS
DISEASE
FAMILY

Access to Document

10.1046/j.1523-1747.1998.00422.x

Cite this

Rouan, F., Pulkkinen, L., Jonkman, M. F., Bauer, J., Cserhalmi-Friedman, P. B., Christiano, A. M., & Uitto, J. (1998). Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. JOURNAL OF INVESTIGATIVE DERMATOLOGY , 111(6), 1210-1213. https://doi.org/10.1046/j.1523-1747.1998.00422.x

Rouan, F ; Pulkkinen, L ; Jonkman, M F et al. / Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. In: JOURNAL OF INVESTIGATIVE DERMATOLOGY 1998 ; Vol. 111, No. 6. pp. 1210-1213.

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keywords = "TO-ARGININE SUBSTITUTION, IDENTIFICATION, VARIANTS, DISEASE, FAMILY",

author = "F Rouan and L Pulkkinen and Jonkman, {M F} and Johann Bauer and Cserhalmi-Friedman, {P B} and Christiano, {A M} and J Uitto",

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Rouan, F, Pulkkinen, L, Jonkman, MF, Bauer, J, Cserhalmi-Friedman, PB, Christiano, AM & Uitto, J 1998, 'Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.', JOURNAL OF INVESTIGATIVE DERMATOLOGY , vol. 111, no. 6, pp. 1210-1213. https://doi.org/10.1046/j.1523-1747.1998.00422.x

Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. / Rouan, F; Pulkkinen, L; Jonkman, M F et al.
In: JOURNAL OF INVESTIGATIVE DERMATOLOGY , Vol. 111, No. 6, 1998, p. 1210-1213.

Research output: Contribution to journal › Original Article (Journal) › peer-review

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T1 - Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

AU - Rouan, F

AU - Pulkkinen, L

AU - Jonkman, M F

AU - Bauer, Johann

AU - Cserhalmi-Friedman, P B

AU - Christiano, A M

AU - Uitto, J

PY - 1998

Y1 - 1998

KW - TO-ARGININE SUBSTITUTION

KW - IDENTIFICATION

KW - VARIANTS

KW - DISEASE

KW - FAMILY

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DO - 10.1046/j.1523-1747.1998.00422.x

M3 - Original Article (Journal)

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SN - 0022-202X

VL - 111

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JO - JOURNAL OF INVESTIGATIVE DERMATOLOGY

JF - JOURNAL OF INVESTIGATIVE DERMATOLOGY

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Rouan F, Pulkkinen L, Jonkman MF, Bauer J, Cserhalmi-Friedman PB, Christiano AM et al. Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling. JOURNAL OF INVESTIGATIVE DERMATOLOGY . 1998;111(6):1210-1213. doi: 10.1046/j.1523-1747.1998.00422.x