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Article

Factor IXHollywood: substitution of Pro55 by Ala in the first epidermal growth factor-like domain.

Blood - 15 Oct 1990

Spitzer S G, Kuppuswamy M N, Saini R, Kasper C K, Birktoft J J, Bajaj S P

Abstract excerpt

Factor IX is a multidomain protein essential for hemostasis. We describe a mutation in a patient affecting the first epidermal growth factor (EGF)-like domain of the protein. All exons and the promoter region of the gene were amplified by the polymerase chain reaction method, and sequenced. Only a single mutation (C----G), that predicts the substitution of Pro55 by Ala in the first EGF domain was found in the...

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Identifiers

PMID: 2169923

Genes

EGF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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