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MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Tom Walsh, Hatice Akay, Michail Spiliopoulos, Yıldırım Bayezıt Şakalar, Aylin Hasanefendioğlu-Bayrak, Duygu Duman, Amjad Farooq, Mary‐Claire King, Mustafa Tekin

The American Journal of Human Genetics · 2010 · 139 citations · 27 references

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References

27

RIBBONS 2.0

Mike Carson · Journal of Applied Crystallography · 1991 · 807 citations

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Activation of the classical complement pathway by mannose-binding protein in association with a novel C1s-like serine protease.

Misao Matsushita, Teizo Fujita · The Journal of Experimental Medicine · 1992 · 639 citations · Full text

, , +16

MASP-3 and Its Association with Distinct Complexes of the Mannan-Binding Lectin Complement Activation Pathway

Mads Ronald Dahl, Steffen Thiel, Misao Matsushita et al. · Immunity · 2001 · 398 citations · Full text

, , +14

Comparative protein structure modeling by iterative alignment, model building and model assessment

Binu V. John · Nucleic Acids Research · 2003 · 323 citations · Full text

, , +16

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

Tom Walsh, Hashem Shahin, T. Elkan Miller et al. · The American Journal of Human Genetics · 2010 · 288 citations · Full text

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