Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation

Clinical Genetics

Volumn 51, Issue 3, 1997, Pages 174-178

  Laitinen, Arja ^a   Hietafa, Marja ^a   Haworth, James C ^b   Schroeder, Marlis L ^b   Seargeant, Lome E ^c   Greenberg, Cheryl R ^b   Aula, Pertti ^a  

^a UNIVERSITY OF TURKU   (Finland)

^b UNIVERSITY OF MANITOBA   (Canada)

^c HEALTH SCIENCES CENTRE   (Canada)

Author keywords

Aspartylglucosaminidase; Aspartylglucosaminuria; Non Finnish

Indexed keywords

N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE;

ARTICLE; ASPARTYLGLYCOSAMINURIA; BONE MARROW TRANSPLANTATION; CANADA; CASE REPORT; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; LYSOSOME STORAGE DISEASE; MALE; MISSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING;

EID: 0030887772     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1997.tb02448.x     Document Type: Article

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