Longevity in Schimke immuno-osseous dysplasia [2]

Journal of Medical Genetics

Volumn 39, Issue 12, 2002, Pages 922-925

  Lou, S ^a   Lamfers, P ^b   McGuire, N ^b   Boerkoel, C F ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Mercy Pediatrics and Adolescent Clinic   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

ADULT; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; DISEASE SEVERITY; DNA REPLICATION; FAMILIAL DISEASE; FEMALE; GENE EXPRESSION REGULATION; GENE ISOLATION; GENE MUTATION; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; INHERITANCE; LETTER; LONGEVITY; NONSENSE MUTATION; NULL ALLELE; ONSET AGE; PREDICTION; PRIORITY JOURNAL; SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SMARCAL1 GENE; SURVIVAL; SYMPTOMATOLOGY; SYNDROME DELINEATION;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; BASE SEQUENCE; CAUSE OF DEATH; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA HELICASES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GENOTYPE; HUMANS; INFANT; LONGEVITY; MALE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; SURVIVAL ANALYSIS;

EID: 0036918287     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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