Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome

Human Mutation

Volumn 28, Issue 11, 2007, Pages 1114-1123

  Marshall, Jan D ^a   Hinman, Elizabeth G ^a   Collin, Gayle B ^a   Beck, Sebastian ^b,c   Cerqueira, Rita ^c   Maffei, Pietro ^d   Milan, Gabriella ^d   Zhang, Weidong ^a   Wilson, David I ^e   Hearn, Tom ^e   Tavares, Purificação ^c   Vettor, Roberto ^d   Veronese, Caterina ^d   Martin, Mitchell ^f   So, W Venus ^f   Nishina, Patsy M ^a   Naggert, Jürgen K ^a  

^a JACKSON LABORATORY   (United States)

^b UNIVERSITY OF GREIFSWALD   (Germany)

^c CGC GENETICS   (Portugal)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^f Hoffmann La Roche ^*  (United States)

Author keywords

ALMS1; Alstr m syndrome; Genotype phenotype correlation; Renal disease; SNPs

Indexed keywords

ALMS1 GENE; ALSTROM SYNDROME; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; DIABETES MELLITUS; EXON; FIBROSIS; FOUNDER EFFECT; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING LOSS; HUMAN; KIDNEY DISEASE; LIVER FAILURE; LUNG INSUFFICIENCY; MAJOR CLINICAL STUDY; MONOGENIC DISORDER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OBESITY; ONSET AGE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETINA DEGENERATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; COHORT STUDIES; DNA PRIMERS; EXONS; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME;

EID: 35648990040     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20577     Document Type: Article

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