Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome

Clinical Genetics

Volumn 72, Issue 4, 2007, Pages 351-356

  Ozgul R K ^a   Satman, Ilhan ^b   Collin, G B ^c   Hinman, E G ^c   Marshall, J D ^c   Kocaman, O ^b   Tutuncu Y ^b   Yilmaz, T ^b   Naggert, J K ^c  

^a HACETTEPE UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c JACKSON LABORATORY   (United States)

Author keywords

ALMS1; Alstr m syndrome; Diabetes mellitus; Hearing loss

Indexed keywords

GENE PRODUCT; PROTEIN ALMS1; UNCLASSIFIED DRUG;

ADULT; ALSTROM SYNDROME; ARTICLE; CASE REPORT; CLINICAL EVALUATION; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; DNA SEQUENCE; EXON; FAMILY STUDY; FEMALE; FLATFOOT; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; HYPERTHYROIDISM; LONG TERM CARE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON;

ADOLESCENT; ADULT; BLINDNESS; CARDIOMYOPATHY, DILATED; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; PROTEINS; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 34548599727     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00848.x     Document Type: Article

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