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Publications by A J Richards

Linkage of Autosomal Dominant Dystrophic Epidermolysis Bullosa in Three British Families to the Marker D3S2 Close to the COL7A1 Locus.

Journal of Medical Genetics
Genetics
1992English

A Single Base Mutation in COL5A2 Causes Ehlers-Danlos Syndrome Type II.

Journal of Medical Genetics
Genetics
1998English

Related publications

Genetic Linkage of Type VII Collagen (COL7A1) to Dominant Dystrophic Epidermolysis Bullosa in Families With Abnormal Anchoring Fibrils.

Journal of Clinical Investigation
Medicine
1992English

A Case of Dominant Dystrophic Epidermolysis Bullosa Responding Well to an Old Medication

JAMA Dermatology
DermatologyMedicine
2015English

Case Report: Whole Exome Sequencing Reveals a Novel Frameshift Deletion Mutation p.G2254fs in COL7A1 Associated With Autosomal Recessive Dystrophic Epidermolysis Bullosa

F1000Research
GeneticsMolecular BiologyPharmacologyBiochemistryMicrobiology ImmunologyMedicineToxicologyPharmaceutics
2016English

Recessive Dystrophic Epidermolysis Bullosa Inversa

2020English

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families With High Degree of Customary Consanguineous Marriages

Journal of Investigative Dermatology
BiochemistryDermatologyCell BiologyMolecular Biology
2017English

Dilated Cardiomyopathy in Dystrophic Epidermolysis Bullosa

Archives of Disease in Childhood
Child HealthPediatricsPerinatology
2000English

Exclusion of Linkage Between the Collagenase Gene and Generalized Recessive Dystrophic Epidermolysis Bullosa Phenotype.

Journal of Clinical Investigation
Medicine
1991English

Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa Using a Self-Inactivating COL7A1 Retroviral Vector

Journal of Investigative Dermatology
BiochemistryDermatologyCell BiologyMolecular Biology
2016English

271 From Clinical to Genotypic Modeling: Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Journal of Investigative Dermatology
BiochemistryDermatologyCell BiologyMolecular Biology
2019English

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