Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Human mutation

Volumn 28, Issue 6, 2007, Pages 638-639

  Frank, Valeska ^a   Ortiz Brüchle, Nadina ^a   Mager, Silke ^a   Frints, Susanna G M ^a   Bohring, Axel ^a   du Bois, Gabriele ^a   Debatin, Irmgard ^a   Seidel, Heide ^a   Senderek, Jan ^a   Besbas, Nesrin ^a   Todt, Unda ^a   Kubisch, Christian ^a   Grimm, Tiemo ^a   Teksen, Fulya ^a   Balci, Sevim ^a   Zerres, Klaus ^a   Bergmann, Carsten ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MKS1 PROTEIN, HUMAN; PROTEIN; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; CAUCASIAN; CENTRAL NERVOUS SYSTEM; CONGENITAL MALFORMATION; CONSANGUINITY; EXON; GENE DELETION; GENETICS; HAPLOTYPE; HOMOZYGOTE; HUMAN; INTRON; KIDNEY POLYCYSTIC DISEASE; KUWAIT; LIVER; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYDACTYLY; SYNDROME; TURKEY (REPUBLIC);

ABNORMALITIES, MULTIPLE; ALTERNATIVE SPLICING; CENTRAL NERVOUS SYSTEM; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; HAPLOTYPES; HOMOZYGOTE; HUMANS; INTRONS; KIDNEY DISEASES, CYSTIC; KUWAIT; LIVER; MUTATION; PEDIGREE; POLYDACTYLY; PROTEINS; SEQUENCE DELETION; SYNDROME; TURKEY;

EID: 34249739085     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9496     Document Type: Article

References (0)