Publications:

Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia.

Frontiers In Genetics

Minchiotti, Lorenzo L; Caridi, Gianluca G; Campagnoli, Monica M; Lugani, Francesca F; Galliano, Monica M; Kragh-Hansen, Ulrich U

Publication Date: 2019

Variant appearance in text: TG: 1610del

PubMed Link: 31057599

Variant Present in the following documents:

• Main text

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Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Human Mutation

Marduel, Marie M; Carrié, Alain A; Sassolas, Agnes A; Devillers, Martine M; Carreau, Valérie V; Di Filippo, Mathilde M; Erlich, Danièle D; Abifadel, Marianne M; Marques-Pinheiro, Alice A; Munnich, Arnold A; Junien, Claudine C; , ; Boileau, Catherine C; Varret, Mathilde M; Rabès, Jean-Pierre JP

Publication Date: 2010-11

Variant appearance in text: TG: 1610del

PubMed Link: 20809525

Variant Present in the following documents:

• Main text
• humu0031-E1811.pdf

View BVdb publication page