Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing lesch-nyhan syndrome in a female Patient

Human Mutation

Volumn 7, Issue 1, 1996, Pages 52-58

  Aral, Bernard ^a   De Basile, Geneviève Saint ^b   Al Garawi, Sami ^b   Kamoun, Pierre ^a   Ceballos Picot, Irène ^a  

^a CNRS   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Mutation; Nonrandom X chromosome inactivation; Reverse transcription polymerase chain reaction; Single base substitution; X linked disorder

Indexed keywords

DNA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; TYROSINE;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA METHYLATION; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LESCH NYHAN SYNDROME; POINT MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X CHROMOSOME INACTIVATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELLS, CULTURED; DOSAGE COMPENSATION, GENETIC; EXONS; FEMALE; FIBROBLASTS; HETEROZYGOTE DETECTION; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING;

EID: 0030070315     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)7:1<52::aid-humu7>3.3.co;2-0     Document Type: Article

References (11)

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