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TY  - JOUR
AU  - Coulombe, J.
TI  - Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysis
JO  - Cell
PY  - 1991///
VL  - 66
SP  - 1301
EP  - 1311
M3  - 10.1016/0092-8674(91)90051-Y
N1  - 10.1016/0092-8674(91)90051-Y
UR  - http://dx.doi.org/10.1016/0092-8674(91)90051-Y
ER  - 

TY  - JOUR
AU  - Lane, E.B.
TI  - A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
JO  - Nature
PY  - 1993///
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TY  - JOUR
AU  - Hovnanian, A.
TI  - A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex
JO  - Nature Genet
PY  - 1993///
VL  - 3
SP  - 327
EP  - 332
M3  - 10.1038/ng0493-327
N1  - 10.1038/ng0493-327
UR  - http://dx.doi.org/10.1038/ng0493-327
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TY  - JOUR
AU  - Rothnagel, J.A.
TI  - Mutations in the rod domain of keratins 1 and 10 in epidermolytic hyperkeratosis
JO  - Science
PY  - 1992///
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EP  - 1130
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TY  - JOUR
AU  - Cheng, J.
TI  - The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes
JO  - Cell
PY  - 1992///
VL  - 70
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M3  - 10.1016/0092-8674(92)90314-3
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UR  - http://dx.doi.org/10.1016/0092-8674(92)90314-3
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TY  - JOUR
AU  - Chipev, C.C.
TI  - A leucine-proline mutation in the H11 subdomain of keratin 1 causes epidermolytic hyperkeratosis
JO  - Cell
PY  - 1992///
VL  - 70
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UR  - http://dx.doi.org/10.1016/0092-8674(92)90315-4
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TY  - JOUR
AU  - Letai, A.
TI  - Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex
JO  - Proc. natn. Acad. Sci. U.S.A.
PY  - 1993///
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AU  - Klaus, S.
AU  - Weinstein, GD.
AU  - Frost, P.
TI  - Localized epidermolytic hyperkeratosis. A form of keratoderma of the palms and soles
JO  - Arch. Dermatol.
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TY  - JOUR
AU  - Reis, A.
AU  - Kuster, W.
AU  - Eckhardt, R.
AU  - Sperling, K.
TI  - Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12[ndash]21
JO  - Hum. Genet.
PY  - 1992///
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AU  - Knapp, A.C.
TI  - Cytokeratin No.9, an epidermal type I keratin characteristic of a special program of keratinocyte differentiation displaying body site specificity
JO  - J. cell Biol.
PY  - 1986///
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TY  - JOUR
AU  - Moll, I.
AU  - Heid, H.
AU  - Franke, W.W.
AU  - Moll, R.
TI  - Distribution of a special subset of keratinocytes characterized by the expression cytokeratin 9 in adult and fetal human epidermis of various body sites
JO  - Differentiation
PY  - 1987///
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AU  - Langbein, L.
AU  - Heid, H.W.
AU  - Moll, I.
AU  - Franke, W.W.
TI  - Differentiation
PY  - ///
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TY  - JOUR
AU  - Anderson, L.A.
TI  - High-density genetic map of the BRCA1 region of chromosome 17q12[ndash]21
JO  - Genomics
PY  - 1993///
VL  - 17
SP  - 618
EP  - 623
M3  - 10.1006/geno.1993.1381
N1  - 10.1006/geno.1993.1381
UR  - http://dx.doi.org/10.1006/geno.1993.1381
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TY  - JOUR
AU  - Simard, J.
TI  - Genetic mapping of the breast-ovarian cancer syndrome to a small interval on chromosome 17q12[ndash]21: Exclusion of candidate genes EDH17B2 and RARA
JO  - Hum. molec. Genet.
PY  - 1993///
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TY  - GEN
AU  - Lynch, H.T.
TI  - Genetics and breast cancer
PY  - 1981///
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TY  - JOUR
AU  - Go, R.C.P.
TI  - Genetic epidemiology of breast cancer and associated cancers in high risk families. I. Segregation analysis
JO  - JNCI
PY  - 1983///
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AU  - Hall, J.M.
AU  - Lee, M.K.
AU  - Morrow, J.
AU  - Anderson, L.
AU  - King, M.-C.
TI  - Linkage of early onset familial breast cancer to chromosome 17q21
JO  - Science
PY  - 1990///
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AU  - Narod, S.A.
TI  - Familial breast-ovarian cancer locus on chromosome 17q12[ndash]23
JO  - Lancet
PY  - 1991///
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AU  - Easton, D.F.
AU  - Bishop, D.T.
AU  - Ford, D.
AU  - Crockford, G.P.
TI  - Genetic linkage analysis in familial breast and ovarian cancer: Results from 214 families
JO  - Am. J. hum. Genet.
PY  - 1993///
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AU  - Blanchet-Bardon, C.
TI  - Hereditary epidermolytic palmoplantar keratoderrna associated with breast and ovarian cancer in a large kindred
JO  - Br. J. Dermatol.
PY  - 1987///
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AU  - Bowcock, A.M.
TI  - THRA1 and D17S183 flank an Interval of <4cM
JO  - Am. J. hum. Genet.
PY  - 1993///
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AU  - Feunteun, J.
TI  - A breast-ovarian cancer susceptibility gene maps to chromosome 17q21
JO  - Am. J. hum. Genet.
PY  - 1993///
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AU  - Howel-Evans, W.
AU  - McConnel, R.B.
AU  - Clarke, C.A.
AU  - Sheppard, P.M.
TI  - Carcinoma of the oesophagus with keratosis palmaris et plantaris (tylosis). A study of two families
JO  - Q. J. Med.
PY  - 1958///
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AU  - Bennion, S.D.
AU  - Patterson, J.W.
TI  - Keratosis punctata palmaris and plantaris and adenocarcinoma of the colon
JO  - J. Am. Acad. Dermatol.
PY  - 1984///
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AU  - Newman, B.
AU  - Austin, M.A.
AU  - Lee, M.
AU  - King, M.-C.
TI  - Inheritance of human breast cancer evidence for autosomal dominant transmission in high-risk families
JO  - Proc. natn. Acad. Sci. U.S.A.
PY  - 1988///
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TY  - JOUR
AU  - Claus, E.B.
AU  - Risch, N.
AU  - Thompson, W.D.
TI  - Genetic analysis of breast cancer in the cancer and steroid hormone study
JO  - Am. J. hum. Genet.
PY  - 1991///
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AU  - Schildkraut, J.M.
AU  - Thompson, W.D.
TI  - Familial ovarian cancer: a population-based case-control study
JO  - Am. J. Epidemiol.
PY  - 1988///
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