Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene

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Bibliographic Details
Published inClinical genetics Vol. 65; no. 2; pp. 156 - 157
Main Authors Titomanlio, L., De Brasi, D., Buoninconti, A., Sperandeo, M.P., Pepe, A., Andria, G., Sebastio, G.
Format Journal Article
LanguageEnglish
Published Oxford, UK; Malden , USA Munksgaard International Publishers 01.02.2004
Blackwell
Subjects
Abnormalities, Multiple - genetics
Biological and medical sciences
Child, Preschool
Codon, Nonsense
General aspects. Genetic counseling
Humans
Male
Medical genetics
Medical sciences
Phenotype
Proteins - genetics
Siblings
Syndrome
Human
Phenotype
Gene
Family study
Nonsense mutation
Variability
Genetics
Syndrome
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Bibliography:ArticleID:CGE204
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SourceType-Other Sources-1
content type line 63
ObjectType-Correspondence-1
ISSN:0009-9163
1399-0004
DOI:10.1111/j.0009-9163.2004.00204.x