A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

American Journal of Human Genetics

Volumn 69, Issue 4, 2001, Pages 869-875

  Parvari, Ruti ^a   Brodyansky, Irena ^a   Elpeleg, Orly ^b   Moses, Shimon ^a   Landau, Daniel ^a   Hershkovitz, Eli ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PHOSPHOPROTEIN PHOSPHATASE;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 2P; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTINURIA; DISEASE ASSOCIATION; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FACE DYSMORPHIA; FEMALE; GENE DELETION; GENE EXPRESSION; GENE SEQUENCE; HAPLOTYPE; HUMAN; LACTIC ACIDEMIA; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; RESPIRATORY CHAIN; SEIZURE; SYNTHESIS;

EID: 0034822167     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/323624     Document Type: Article

References (14)

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14. Clinical manifestations of mitochondrial DNA depletion