Locus heterogeneity and Knobloch syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2880-2881

  Joyce, Sarah ^a   Tee, Louise ^a   Abid, Aiysha ^b   Khaliq, Shagufta ^b   Mehdi, S Qasim ^b   Maher, Eamonn R ^a,c  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b SINDH INSTITUTE OF UROLOGY AND TRANSPLANTATION   (Pakistan)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; CATARACT; CHROMOSOME 17Q; COL18A1 GENE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; KNOBLOCH SYNDROME; LETTER; MYOPIA; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VITREORETINAL DEGENERATION;

CHROMOSOMES, HUMAN, PAIR 17; DNA MUTATIONAL ANALYSIS; ENCEPHALOCELE; FAMILY; FEMALE; GENETIC HETEROGENEITY; GENETIC LOCI; HUMANS; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINAL DETACHMENT;

EID: 78049237401     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33619     Document Type: Letter

References (7)

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