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2001
Mark The mutational spectrum of human malignant autosomal recessive osteopetrosis
Sobacchi, C ; Frattini, A ; Orchard, P ; Porras, O ; Tezcan, I ; Andolina, M ; Babul-Hirji, R ; Baric, I ; Canham, N and Chitayat, D , et al. (2001) In Human Molecular Genetics 10(17). p.1767-1773
- Contribution to journal › Article
1999
Mark Mutations of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia
Vihinen, Mauno ^LU ; Kwan, SP ; Lester, T ; Ochs, HD ; Resnick, I ; Valiaho, J ; Conley, ME and Smith, CIE (1999) In Human Mutation 13(4). p.280-285
- Contribution to journal › Article
1998
Mark BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
Vihinen, Mauno ^LU ; Brandau, O ; Branden, LJ ; Kwan, SP ; Lappalainen, I ; Lester, T ; Noordzij, JG ; Ochs, HD ; Ollila, J and Pienaar, SM , et al. (1998) In Nucleic Acids Research 26(1). p.242-247
- Contribution to journal › Article
1997
Mark Missense mutations affecting a conserved cysteine pair in the TH domain of Btk
Vihinen, Mauno ^LU ; Nore, BF ; Mattsson, PT ; Backesjo, CM ; Nars, M ; Koutaniemi, S ; Watanabe, C ; Lester, T ; Jones, A and Ochs, HD , et al. (1997) In FEBS Letters 413(2). p.205-210
- Contribution to journal › Article
Mark BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
Vihinen, Mauno ^LU ; Belohradsky, BH ; Haire, RN ; HolinskiFeder, E ; Kwan, SP ; Lappalainen, I ; Lehvaslaiho, H ; Lester, T ; Meindl, A and Ochs, HD , et al. (1997) In Nucleic Acids Research 25(1). p.166-171
- Contribution to journal › Article
1996
Mark BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
Vihinen, Mauno ^LU ; Iwata, T ; Kinnon, C ; Kwan, SP ; Ochs, HD ; Vorechovsky, I and Smith, CIE (1996) In Nucleic Acids Research 24(1). p.160-165
- Contribution to journal › Article
Mark BTKbase: XLA-mutation registry
Vihinen, Mauno ^LU ; Brooimans, RA ; Kwan, SP ; Lehvaslaiho, H ; Litman, GW ; Ochs, HD ; Resnick, I ; Schwaber, JH ; Vorchovsky, I and Smith, CIE (1996) In Immunology Today 17(11). p.502-506
- Contribution to journal › Article
1995
Mark Structural basis for pleckstrin homology domain mutations in X-linked agammaglobulinemia
Vihinen, Mauno ^LU ; ZVELEBIL, MJJM ; ZHU, QL ; BROOIMANS, RA ; OCHS, HD ; ZEGERS, BJM ; NILSSON, L ; WATERFIELD, MD and SMITH, CIE (1995) In Biochemistry 34(5). p.1475-1481
- Contribution to journal › Article
Mark BTKBASE - A DATABASE OF XLA-CAUSING MUTATIONS
Vihinen, Mauno ^LU ; COOPER, MD ; DESAINTBASILE, G ; FISCHER, A ; GOOD, RA ; HENDRIKS, RW ; KINNON, C ; KWAN, SP ; LITMAN, GW and NOTARANGELO, LD , et al. (1995) In Immunology Today 16(10). p.460-465
- Contribution to journal › Article
1994
Mark STRUCTURAL BASIS FOR CHROMOSOME X-LINKED AGAMMAGLOBULINEMIA - A TYROSINE KINASE DISEASE
Vihinen, Mauno ^LU ; VETRIE, D ; MANIAR, HS ; OCHS, HD ; ZHU, QL ; VORECHOVSKY, I ; WEBSTER, ADB ; NOTARANGELO, LD ; NILSSON, L and SOWADSKI, JM , et al. (1994) In Proceedings of the National Academy of Sciences 91(26). p.12803-12807
- Contribution to journal › Article

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