A splicing mutation (891+4A→G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a moslem Arab family

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Pras, Elon ^a   Golomb, Eliyahu ^b   Drake, Cassius ^d   Aksentijevich, Ivona ^d   Katz, Giora ^c   Kastner, Daniel L ^d  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c UNIVERSITY OF FLORIDA   (United States)

^d NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; MESSENGER RNA; AMINO ACID TRANSPORTER; CARRIER PROTEIN; MEMBRANE PROTEIN; SLC7A9 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CYSTINURIA; DNA STRUCTURE; FAMILY STUDY; FEMALE; GENE MUTATION; GENE STRUCTURE; GENOME; HUMAN; HUMAN CELL; MALE; NEPHROLITHIASIS; PRIORITY JOURNAL; RNA SPLICING; ALTERNATIVE RNA SPLICING; ARAB; CHEMISTRY; EXON; FAMILY HEALTH; GENETICS; ISRAEL; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RELIGION; URINE;

ALTERNATIVE SPLICING; AMINO ACID TRANSPORT SYSTEMS, BASIC; ARABS; CARRIER PROTEINS; CYSTINURIA; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; HUMANS; ISLAM; ISRAEL; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; PEDIGREE;

EID: 0031985542     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110110     Document Type: Article

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