High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis

American Journal of Human Genetics

Volumn 58, Issue 3, 1996, Pages 535-543

  Jean, Geneviève ^a   Fuchshuber, Arno ^a   Town, Margaret M ^b   Gribouval, Olivier ^a   Schneider, Jerry A ^d   Broyer, Michel ^a   Hoff, William VaN'T ^c   Niaudet, Patrick ^a   Antignac, Corinne ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b GUY S HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTINOSIS; FANCONI RENOTUBULAR SYNDROME; GENE LOCUS; GENETIC LINKAGE; HETEROZYGOTE DETECTION; HUMAN; KIDNEY FAILURE; LYSOSOME MEMBRANE; PHENOTYPE; PRIORITY JOURNAL;

EID: 0030043740     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Aksentijevich I, Pras E, Gruberg L, Shen Y, Holman K, Helling S, Prosen L, et al (1993) Familial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis. Am J Hum Genet 53:644-651
2. Ben Simon-Schiff E, Bach G, Zlotogora J, Abeliovich D (1993) Combined enzymatic and linkage analysis for heterozygote detection in Hunter syndrome: identification of an apparent case of germinal mosaicism. Am J Med Genet 47:837-842
3. Bois E, Feingold J, Frenay P, Briard ML (1976) Infantile cystinosis in France: genetics, incidence, geographic distribution. J Med Genet 13:434-438
4. Cappello N, Restagno G, Garnerone S, Gennaro C, Perugini L, Rendine S, Piazza A (1992) Carrier detection for prenatal diagnosis of hemophilia A in Italian families. Haematologica 77:302-306
5. Cottingham RW Jr, Idury RM, Schäffer AA (1993) Faster sequential genetic linkage computations. Am J Hum Genet 53:252-263