Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome

Human Genetics

Volumn 103, Issue 3, 1998, Pages 311-318

  Tvrdik, Tatiana ^a   Marcus, Suzanne ^b   Hou, Sai Mei ^b   Fält, Susann ^b   Noori, Peri ^b   Podlutskaja, Natalia ^b   Hanefeld, Folker ^c   Strømme, Petter ^d   Lambert, Bo ^b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KAROLINSKA INSTITUTE   (Sweden)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ARTICLE; CASE REPORT; CHILD; DNA SEQUENCE; EXON; FIBROBLAST; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; INTRON; LESCH NYHAN SYNDROME; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; T LYMPHOCYTE;

ALU ELEMENTS; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

RAPHIA FRATER;

EID: 0031656123     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050822     Document Type: Article

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