Brachdactyly instigated as a result of mutation in GDF5 and NOG genes in Pakistani population
Pakistan Journal of Medical Sciences. 2018; 34 (1): 82-87
en Inglés
| IMEMR
| ID: emr-151152
ABSTRACT
Objectives:
Brachdactyly a genetic disorder associated with the abnormal development of metacarpals, phalanges or both which results in the shortening of hands and feet. Mutations in the contributing genes has been recognized with the majority of the investigated syndromic form of brachdactyly. The current study was proposed to examine mutation in NOG and GDF5 genes in a Pakistani family
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Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Linaje
/
Proteínas Portadoras
/
Reacción en Cadena de la Polimerasa
/
Electroforesis en Gel de Poliacrilamida
/
Falanges de los Dedos de la Mano
/
Factor 5 de Diferenciación de Crecimiento
/
Genotipo
/
Ligamiento Genético
/
Mutación
Límite:
Adolescente
/
Adulto
/
Niño
/
Child, preschool
/
Femenino
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Pak. J. Med. Sci.
Año:
2018
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