Indexed keywords
AMINO ACID;
GENOMIC DNA;
PROTEIN TYROSINE KINASE;
STEM CELL FACTOR;
AMINO ACID SUBSTITUTION;
AUTOSOMAL DOMINANT DISORDER;
AUTOSOMAL DOMINANT INHERITANCE;
CELL MIGRATION;
CELL PROLIFERATION;
CHINESE;
CONSANGUINEOUS MARRIAGE;
DEPIGMENTATION;
DISEASE SEVERITY;
DNA DETERMINATION;
DNA FLANKING REGION;
GENE AMPLIFICATION;
GENE IDENTIFICATION;
GENE MUTATION;
HUMAN;
HYPERPIGMENTATION;
INFORMED CONSENT;
LETTER;
LEUKODERMA;
MELANOCYTE;
PATERNITY;
PIEBALDISM;
PRIORITY JOURNAL;
PROTEIN DOMAIN;
PROTO ONCOGENE;
AMINO ACID SUBSTITUTION;
CHILD, PRESCHOOL;
FEMALE;
HUMANS;
INFANT;
MALE;
MUTATION;
PIEBALDISM;
PROTO-ONCOGENE PROTEINS C-KIT;
1
33646152642
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Keeler, C.E.1
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Human piebaldism: Six novel mutations of the proto-oncogene KIT
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Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene
Giebel LB, Strunk KM, Holmes SA et al. Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene. Oncogene 1992; 7:2207-17.
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Oncogene
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Giebel, L.B.1
Strunk, K.M.2
Holmes, S.A.3
4
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Mutation of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism
Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Proc Natl Acad Sci U.S.A 1991; 88:8696-9.
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Giebel, L.B.1
Spritz, R.A.2
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Cloning and structural analysis of the human c-kit gene
Vandenbark GR, DeCastro CM, Taylor H et al. Cloning and structural analysis of the human c-kit gene. Oncogene 1992; 7:1259-66.
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Vandenbark, G.R.1
DeCastro, C.M.2
Taylor, H.3
6
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Dimerization and activation of the kit receptor by monovalent and bivalent binding of the stem cell factor
Lev S, Yarden Y, Givol D. Dimerization and activation of the kit receptor by monovalent and bivalent binding of the stem cell factor. J Biol Chem 1992; 267:15970-7.
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Lev, S.1
Yarden, Y.2
Givol, D.3
7
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Molecular basis of human piebaldism
Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol 1994; 103:137-40.
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Spritz, R.A.1
8
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Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism
Ezoe K, Holmes SA, Ho L et al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet 1995; 56:58-66.
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Ezoe, K.1
Holmes, S.A.2
Ho, L.3
9
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A novel KIT mutation results in piebaldism with progressive depigmentation
Richards KA, Fukai K, Oiso N et al. A novel KIT mutation results in piebaldism with progressive depigmentation. J Am Acad Dermatol 2001; 44:288-92.
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, vol.44
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Richards, K.A.1
Fukai, K.2
Oiso, N.3
10
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Human piebaldism: Relationship between phenotype and site of kit gene mutation
Ward KA, Moss C, Sanders DSA. Human piebaldism: relationship between phenotype and site of kit gene mutation. Br J Dermatol 1995; 132:929-35.
(1995)
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Ward, K.A.1
Moss, C.2
Sanders, D.S.A.3