Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.

Crosnier, C; Driancourt, C; Raynaud, N; Hadchouel, M; Meunier-Rotival, M

Crosnier, C; Driancourt, C; Raynaud, N; Hadchouel, M; Meunier-Rotival, M.

Affiliation

Crosnier C; INSERM Unité 347 affiliée au CNRS, F-94276 Le Kremlin-Bicetre, France.

Hum Mutat ; 17(1): 72-3, 2001.

Article in En | MEDLINE | ID: mdl-11139247

Subject(s)

Alagille Syndrome/genetics; Mutation/genetics; Proteins/genetics; Alternative Splicing/genetics; Amino Acid Motifs/genetics; Amino Acid Substitution/genetics; Calcium-Binding Proteins; DNA Mutational Analysis; Humans; Intercellular Signaling Peptides and Proteins; Jagged-1 Protein; Male; Membrane Proteins; Mutation, Missense; Repetitive Sequences, Amino Acid; Serrate-Jagged Proteins

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Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Alagille Syndrome / Mutation Limits: Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2001 Document type: Article Affiliation country: France Country of publication: United States

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