Alström Syndrome: Mutation Spectrum of ALMS1

Human Mutation

Volumn 36, Issue 7, 2015, Pages 660-668

  Marshall, Jan D ^a,b   Muller, Jean ^c,d   Collin, Gayle B ^a   Milan, Gabriella ^e   Kingsmore, Stephen F ^f   Dinwiddie, Darrell ^f,g   Farrow, Emily G ^f   Miller, Neil A ^f   Favaretto, Francesca ^e   Maffei, Pietro ^e   Dollfus, Hélène ^c,d   Vettor, Roberto ^e   Naggert, Jürgen K ^a  

^a JACKSON LABORATORY   (United States)

^b Alström Syndrome International   (United States)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^e UNIVERSITY OF PADOVA   (Italy)

^f CHILDREN S MERCY HOSPITAL   (United States)

^g UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

Author keywords

ALMS1; Alstr m Syndrome; Ciliopathy; SNV

Indexed keywords

ALMS1 GENE; ALSTROM SYNDROME; ARTICLE; CELL CYCLE REGULATION; CLINICAL FEATURE; CONTROLLED STUDY; EXON; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; INDEL MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUCOCILIARY TRANSPORT; MUTATIONAL ANALYSIS; ONSET AGE; PATHOGENICITY; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; STOP CODON; ADOLESCENT; ADULT; CHILD; GENETICS; MUTATION; PEDIGREE; YOUNG ADULT;

ALMS1 PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; ADULT; ALSTROM SYNDROME; CHILD; EXONS; HUMANS; MUTATION; PEDIGREE; PROTEINS; YOUNG ADULT;

EID: 84931575363     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22796     Document Type: Article

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