Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: Identification of mutation and prenatal diagnosis

Clinical Genetics

Volumn 50, Issue 3, 1996, Pages 164-167

  Yamada, Y ^a   Suzumori, K ^b   Tanemura, M ^b   Goto, H ^a   Ogasawara, N ^a  

^a INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^b NAGOYA CITY UNIV MEDICAL SCHOOL   (Japan)

Author keywords

Hypoxanthine guanine phosphoribosyltransferase; Lesch Nyhan syndrome; Point mutation; Prenatal diagnosis; Sequence analysis

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ALLELE; ARTICLE; CASE REPORT; CHORION VILLUS; CODON; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; JAPAN; LESCH NYHAN SYNDROME; MOLECULAR BIOLOGY; MOTHER; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0029860760     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02374.x     Document Type: Article

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