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Academic Journal

In silico analysis of missense mutations in exons 1–5 of the F9 gene that cause hemophilia B.

Subjects: *MISSENSE mutation; *HEMOPHILIA; *PROTEIN structure

  • Source: BMC Bioinformatics. 6/28/2019, Vol. 20 Issue 1, p1-13. 13p. 2 Diagrams, 3 Charts, 3 Graphs.

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Academic Journal

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Subjects: *MISSENSE mutation; *HUMAN phenotype; *TOES

  • Source: BMC Medical Genetics. 8/1/2019, Vol. 20 Issue 1, pN.PAG-N.PAG. 1p.

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Academic Journal

A novel heterozygous splice-altering mutation in HFM1 may be a cause of premature ovarian insufficiency.

Subjects: *RNA splicing; *MISSENSE mutation; *ETIOLOGY of diseases

  • Source: Journal of Ovarian Research. 7/6/2019, Vol. 12 Issue 1, pN.PAG-N.PAG. 1p.

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