Localization of refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family

Human Molecular Genetics

Volumn 4, Issue 10, 1995, Pages 1963-1966

  Nadal, Nathalie ^a   Rolland, Marie Odile ^a,b   Tranchant, Christine ^a,c   Reutenauer, Laurence ^a   Gyapay, Gabor ^a,d   Warter, Jean Marie ^a,c   Mandel, Jean Louis ^a   Kœnig, Michel ^a  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b HÔPITAL DEBROUSSE   (France)

^c UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^d GÉNÉTHON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

OXIDOREDUCTASE; PHYTANIC ACID; PIPECOLIC ACID;

ACIDEMIA; ARTICLE; BLOOD LEVEL; CATABOLISM; CHROMOSOME 10P; CHROMOSOME SATELLITE; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF PEROXISOMAL FUNCTIONS; GENE MAPPING; GENETIC LINKAGE; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; HUMAN CELL; PRIORITY JOURNAL; REFSUM DISEASE;

CASE REPORT; CELLS, CULTURED; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; DNA, SATELLITE; FEMALE; FIBROBLASTS; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; LINKAGE (GENETICS); MALE; MIXED FUNCTION OXYGENASES; NUCLEAR FAMILY; PEDIGREE; PIPECOLIC ACIDS; POLYMERASE CHAIN REACTION; REFSUM DISEASE; SUPPORT, NON-U.S. GOV'T;

EID: 0028856423     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.10.1963     Document Type: Article

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