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Volumn 53, Issue 3, 1993, Pages 722-729
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Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type 1: Implication in carrier detection and prenatal diagnosis
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Author keywords
[No Author keywords available]
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Indexed keywords
BILIRUBIN;
PHENOL;
ARTICLE;
CASE REPORT;
CLINICAL FEATURE;
CRIGLER NAJJAR SYNDROME;
GENE MUTATION;
GENE SEGREGATION;
GENETIC RECOMBINATION;
HAPLOTYPE;
HETEROZYGOTE DETECTION;
HUMAN;
HUMAN CELL;
HUMAN TISSUE;
IMMUNOCHEMISTRY;
INFANT;
MALE;
POLYMERASE CHAIN REACTION;
PRENATAL DIAGNOSIS;
PRIORITY JOURNAL;
ALLELES;
BASE SEQUENCE;
BILIRUBIN;
BLOTTING, SOUTHERN;
CHROMOSOMES, HUMAN, PAIR 2;
CRIGLER-NAJJAR SYNDROME;
DNA MUTATIONAL ANALYSIS;
DNA PROBES;
FEMALE;
GENES, RECESSIVE;
GENETIC MARKERS;
GLUCURONOSYLTRANSFERASE;
HAPLOTYPES;
HETEROZYGOTE DETECTION;
HUMAN;
IMMUNOBLOTTING;
INFANT;
ISOENZYMES;
LINKAGE (GENETICS);
LIVER;
MALE;
MOLECULAR SEQUENCE DATA;
MULTIGENE FAMILY;
MUTATION;
PEDIGREE;
PHENOLS;
POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;
PRENATAL DIAGNOSIS;
PROPOFOL;
SUPPORT, NON-U.S. GOV'T;
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EID: 0027422955
PISSN: 00029297
EISSN: None
Source Type: Journal
DOI: None Document Type: Article |
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Times cited : (50)
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References (0)
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