Two newly identified mutations (Thr233Ile and Leu152Met) in partially adenosine deaminase-deficient (ADA-) individuals that result in differing biochemical and metabolic phenotypes

Human Genetics

Volumn 100, Issue 1, 1997, Pages 22-29

  Hirschhorn, R ^a   Borkowsky, W ^a   Jiang, C K ^a   Yang, D R ^a   Jenkins, T ^b  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b NATIONAL HEALTH LABORATORY SERVICE   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; ARGININE; CYSTEINE; ISOLEUCINE; LEUCINE; METHIONINE; THREONINE;

AFRICA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BIOCHEMISTRY; CPG ISLAND; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; METABOLISM; PRIORITY JOURNAL; UNITED STATES;

ADENOSINE; ADENOSINE DEAMINASE; ADULT; ANIMALS; CELL LINE, TRANSFORMED; CHILD; COS CELLS; DEOXYADENINE NUCLEOTIDES; DEOXYADENOSINES; HOMOZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT, NEWBORN; MALE; MUTATION;

ADA;

EID: 0030840913     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050460     Document Type: Article

References (39)

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