Clinical findings and structural analysis involving a patient with a novel KLHL15 variant.

Caswell, Richard C; Baptista, Julia; Cairns, Lauren M; Wilson, Kate; Stewart, Helen

Caswell, Richard C; Baptista, Julia; Cairns, Lauren M; Wilson, Kate; Stewart, Helen.

Afiliación

Caswell RC; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, EX2 5DW, UK.
Baptista J; Peninsula Medical School, Faculty of Health, University of Plymouth, UK.
Cairns LM; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK; Royal Berkshire Hospital, Royal Berkshire NHS Foundation Trust, Reading, RG1 5AN, UK.
Wilson K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK; Genes Australia, 298 Gilchrist Ave, Herston QLD, 4006, Australia.
Stewart H; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK. Electronic address: Helen.Stewart@ouh.nhs.uk.

Eur J Med Genet ; 66(6): 104768, 2023 Jun.

Article en En | MEDLINE | ID: mdl-37059329

Asunto(s)

Exoma; Proteínas de Microfilamentos; Niño; Humanos; Proteínas de Microfilamentos/genética

Palabras clave

KLHL15; Protein function; Structural analysis; Variant classification

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Exoma / Proteínas de Microfilamentos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Países Bajos

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