Molecular genetics of cystinuria: Identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity

American Journal of Human Genetics

Volumn 57, Issue 4, 1995, Pages 781-788

  Gasparini, P ^a   Calonge, M J ^a   Bisceglia, L ^a   Purroy, J ^a   Dianzani, I ^a   Notarangelo, A ^a   Rousaud, F ^a   Gallucci, M ^a   Testar, X ^a   Ponzone, A ^a   Estivill, X ^a   Zorzano, A ^a   Palacin, M ^a   Nunes, V ^a   Zelante, L ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CYSTINURIA; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MOLECULAR GENETICS; PRIORITY JOURNAL;

ALLELES; BASE SEQUENCE; CYSTINURIA; DNA; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; ITALY; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMORPHISM (GENETICS); POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SPAIN; SUPPORT, NON-U.S. GOV'T;

EID: 0029100842     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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