A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis.

Jan, Hamadia; Wasif, Naveed; Naqvi, Syed Kamran-Ul-Hassan; Ullah, Imran; Ahmad, Wasim

Jan, Hamadia; Wasif, Naveed; Naqvi, Syed Kamran-Ul-Hassan; Ullah, Imran; Ahmad, Wasim.

Afiliación

Jan H; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
Wasif N; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, Germany.
Naqvi SK; Institute of Human Genetics, University Hospital Schleswig-Holstein, Kiel, Germany.
Ullah I; Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan.
Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.

Congenit Anom (Kyoto) ; 63(4): 127-128, 2023 07.

Article en En | MEDLINE | ID: mdl-37128664

Asunto(s)

Ictiosis Lamelar; Humanos; Homocigoto; Mutación

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Ictiosis Lamelar Tipo de estudio: Etiology_studies Límite: Humans Idioma: En Revista: Congenit Anom (Kyoto) Asunto de la revista: TERATOLOGIA Año: 2023 Tipo del documento: Article País de afiliación: Pakistán

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