Missense mutation R121W in the Norrie disease gene in Kuwaiti Bedouin family
Egyptian Journal of Medical Human Genetics [The]. 2006; 7 (1): 83-88
em Inglês
| IMEMR
| ID: emr-76551
ABSTRACT
Herein, we describe the molecular defects in the Norrie disease [ND] gene in a Kuwaiti Bedouin family with three affected sibs. Norrie disease is a rare X-linked recessive disorder, characterized by congenital blindness, malformed retina, psychomotor delay and deafness in a proportion of patients. We analyzed the genomic DNA through polymerase chain reaction [PCR] and restriction fragment length polymorphism [PCR-RFLP] approach. We have found the presence of R121W mutation within exon 3. We have identified a single base pair substitution [C>T] mutation of ND gene
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Transtornos Psicomotores
/
Reação em Cadeia da Polimerase
/
Impressões Digitais de DNA
/
Mutação de Sentido Incorreto
/
Surdez
/
Genes Recessivos
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Egypt. J. Med. Hum. Genet.
Ano de publicação:
2006
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