Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

Cilia

Volumn 1, Issue , 2012, Pages

  Szymanska, Katarzyna ^a   Berry, Ian ^a   Logan, Clare V ^a   Cousins, Simon R R ^a   Lindsay, Helen ^a   Jafri, Hussain ^b,c   Raashid, Yasmin ^c   Malik Sharif, Saghira ^d   Castle, Bruce ^e   Ahmed, Mushtag ^d   Bennett, Chris ^d   Carlton, Ruth ^a   Johnson, Colin A ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b Gene Tech Lab   (Pakistan)

^c KING EDWARD MEDICAL UNIVERSITY   (Pakistan)

^d CHAPEL ALLERTON HOSPITAL   (United Kingdom)

^e ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Founder mutation; Genotype phenotype; Meckel Gruber syndrome

Indexed keywords

DNA;

ARTICLE; CC2D2A GENE; CEP290 GENE; CILIOPATHY; COHORT ANALYSIS; CONTROLLED STUDY; DIRECT SANGER SEQUENCING; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA DETERMINATION; FOUNDER EFFECT; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC PROCEDURES; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MECKEL SYNDROME; MICROSATELLITE MARKER; MISSENSE MUTATION; MKS1 GENE; MKS3 GENE; MUTATION RATE; PAKISTAN; PATIENT SELECTION; PRIORITY JOURNAL; RPGRIP1L GENE; SPLICING DEFECT; TMEM216 GENE; TMEM237 GENE; TMEM67 GENE;

EID: 84900871967     PISSN: None     EISSN: 20462530     Source Type: Journal    
DOI: 10.1186/2046-2530-1-18     Document Type: Article

References (14)

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