Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

Human Mutation

Volumn 13, Issue 3, 1999, Pages 197-202

  Marie, Sandrine ^d   Cuppens, Harry ^a   Heuterspreute, Michel ^a   Jaspers, Martine ^a   Tola, Eduardo Zambrano ^a   Gu, Xiao Xiao ^a   Legius, Eric ^a   Vincent, M Françoise ^b   Jaeken, Jaak ^a   Cassiman, Jean Jacques ^a   Van Den Berghe, Georges ^c  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c DE DUVE INSTITUTE   (Belgium)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLOSUCCINATE LYASE;

ARTICLE; AUTISM; AUTOSOMAL RECESSIVE DISORDER; BELGIUM; CHILD; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; ENZYME DEFICIENCY; EPILEPSY; GENE SEQUENCE; GERMANY; GROWTH RETARDATION; HUMAN; MISSENSE MUTATION; NETHERLANDS; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER;

ADENYLOSUCCINATE LYASE; CHILD; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; HUMANS; MENTAL RETARDATION; MUTATION; MUTATION, MISSENSE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING;

SAICA;

EID: 0032993258     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D     Document Type: Article

References (29)

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