Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7 A9 [3]

Clinical Genetics

Volumn 71, Issue 6, 2007, Pages 597-598

  Eggermann, Thomas ^a   Elbracht, M ^a   Haverkamp, F ^b   Schmidt, C ^a   Zerres, K ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; AUTOIMMUNE REGULATOR PROTEIN; CARRIER PROTEIN; CYSTEINE; GENE PRODUCT; PROTEIN SLC3A1; PROTEIN SLC7A10; PROTEIN SLC7A8; PROTEIN SLC7A9; UNCLASSIFIED DRUG;

ADDISON DISEASE; AMINO ACID URINE LEVEL; ANAMNESIS; AUTOIMMUNE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY; CANDIDIASIS; CYSTINURIA; DIABETES INSIPIDUS; DNA POLYMORPHISM; FAMILY HISTORY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HEPATITIS; HETEROZYGOSITY; HUMAN; HYPOPARATHYROIDISM; LETTER; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR; TETANY;

AMINO ACID TRANSPORT SYSTEMS, BASIC; CYSTINE; CYSTINURIA; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; POLYENDOCRINOPATHIES, AUTOIMMUNE; TRANSCRIPTION FACTORS;

EID: 34249722704     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00797.x     Document Type: Letter

References (7)

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