A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations

American Journal of Medical Genetics, Part A

Volumn 149, Issue 10, 2009, Pages 2093-2098

  Al Dosari, Mohammed ^a,b   Alkuraya, Fowzan S ^b,c,d  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

^d KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

cis and trans Golgi network; Craniofacial; Frenulum; Golgin; Premature aging; Vesicle

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; FEMALE; GENE; GENE MAPPING; GERODERMA OSTEODYSPLASTICA; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SAUDI ARABIA; SCYL1BP1 GENE;

ADOLESCENT; ADULT; AGING, PREMATURE; BONE DISEASES; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CONSANGUINITY; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SKIN DISEASES;

EID: 70349508929     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32996     Document Type: Article

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