Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.

Tamhankar, Parag M; Iyer, Shruti V; Ravindran, Shyla; Gupta, Neerja; Kabra, Madhulika; Nayak, Chitra; Kura, Mahendra; Sanghavi, Swapnil; Joshi, Rajesh; Chennuri, Vasundhara Sridhar; Khopkar, Uday

Tamhankar, Parag M; Iyer, Shruti V; Ravindran, Shyla; Gupta, Neerja; Kabra, Madhulika; Nayak, Chitra; Kura, Mahendra; Sanghavi, Swapnil; Joshi, Rajesh; Chennuri, Vasundhara Sridhar; Khopkar, Uday.

Indian J Dermatol Venereol Leprol ; 2015 Jan-Fer ; 81 (1): 16-22

Article in En | IMSEAR | ID: sea-154999

Subject(s)

Adolescent; Adult; Child; Family/epidemiology; Female; Founder Effect; Humans; India/epidemiology; Male; Mutation/analysis; Mutation/genetics; Mutation, Missense/genetics; Neurologic Manifestations; Xeroderma Pigmentosum/epidemiology; Xeroderma Pigmentosum/genetics; Xeroderma Pigmentosum/pathology; Xeroderma Pigmentosum Group A Protein/genetics

Key words

Founder mutation; India; neurological manifestations; xeroderma pigmentosum; XPA; XPC

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Full text: 1 Index: IMSEAR Main subject: Xeroderma Pigmentosum / Female / Humans / Male / Family / Child / Adolescent / Founder Effect / Adult / Mutation, Missense Type of study: Prognostic_studies Country/Region as subject: Asia Language: En Journal: Indian J Dermatol Venereol Leprol Year: 2015 Type: Article

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