Late diagnosis of maternal PKU in a family segregating an arylsulfatse E mutation causing symmetrical chondrodysplasia punctata

Molecular Genetics and Metabolism

Volumn 68, Issue 4, 1999, Pages 503-506

  Dahl, H H M ^a   Osborn, A H ^a   Hutchison, W M ^a   Thorburn, D R ^a   Sheffield, L J ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

Arylsulfatase E mutation; Chondrodysplasia punctata; Maternal PKU; Puncta

Indexed keywords

ARYLSULFATASE; ISOENZYME;

AMINO ACID SUBSTITUTION; ARTICLE; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; FAMILY STUDY; FEMALE; GENE MUTATION; GENE SEGREGATION; HETEROZYGOTE; HUMAN; MALE; MENTAL DEFICIENCY; PHENYLKETONURIA; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0033373002     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2935     Document Type: Article

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