14.03 · Hémophilie

Hemophilia

Hémostase · 14 pages

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Genetics of Hemorrhagic Diseases

1Title & Course Introduction 2Coagulation & Chromosomal Localization

3History & X-Linked Recessive Inheritance 4European Royal Family Pedigree 5Clinical Features & Severity Classification 6F8C Mutation Types 7Romanov Molecular Diagnosis 8F9 Splice-Site Mutation Mechanism

Fibrinogen Disorders

9Autosomal Recessive vs Dominant Inheritance 10Fibrinogen Locus (4q28-31)11Fibrinogen Geneva & Molecular Mechanisms 12Molecular Mechanisms: DNA, RNA & Protein Levels

13Platelet Diseases 14Clinical Case Study: Severe Hemophilia A

14.03Page 1Genetics of Hemorrhagic DiseasesTitle & Course Introduction

Hémophilie page 1

14.03Page 2Genetics of Hemorrhagic DiseasesCoagulation & Chromosomal Localization

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14.03Page 3Genetics of Hemorrhagic DiseasesHemophiliaHistory & X-Linked Recessive Inheritance

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14.03Page 4Genetics of Hemorrhagic DiseasesHemophiliaEuropean Royal Family Pedigree

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14.03Page 5Genetics of Hemorrhagic DiseasesHemophiliaClinical Features & Severity Classification

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14.03Page 6Genetics of Hemorrhagic DiseasesHemophiliaF8C Mutation Types

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14.03Page 7Genetics of Hemorrhagic DiseasesHemophiliaRomanov Molecular Diagnosis

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14.03Page 8Genetics of Hemorrhagic DiseasesHemophiliaF9 Splice-Site Mutation Mechanism

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14.03Page 9Genetics of Hemorrhagic DiseasesFibrinogen DisordersAutosomal Recessive vs Dominant Inheritance

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14.03Page 10Genetics of Hemorrhagic DiseasesFibrinogen DisordersFibrinogen Locus (4q28-31)

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14.03Page 11Genetics of Hemorrhagic DiseasesFibrinogen DisordersFibrinogen Geneva & Molecular Mechanisms

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14.03Page 12Genetics of Hemorrhagic DiseasesFibrinogen DisordersMolecular Mechanisms: DNA, RNA & Protein Levels

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14.03Page 13Genetics of Hemorrhagic DiseasesPlatelet Diseases

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14.03Page 14Genetics of Hemorrhagic DiseasesClinical Case Study: Severe Hemophilia A

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