Infantile Systemic Hyalinosis: Novel Founder Mutation in the Initiation Codon among "Malis (Farmers)" in Jodhpur.

Soni, Jai Prakash; Puri, Ratna D; Jetha, Kapil; Bhavani, G S L; Chaudhary, Monika; Kohli, Sudha; Verma, I C

Soni, Jai Prakash; Puri, Ratna D; Jetha, Kapil; Bhavani, G S L; Chaudhary, Monika; Kohli, Sudha; Verma, I C.

Afiliação

Soni JP; Genetic Clinic, Department of Pediatrics, Mother and Chlid Hospital, MDM Hospital, Shastri Nagar, Jodhpur, Rajasthan, India. doc_jpsoni@yahoo.com.
Puri RD; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, 110060, India.
Jetha K; Genetic Clinic, Department of Pediatrics, Mother and Chlid Hospital, MDM Hospital, Shastri Nagar, Jodhpur, Rajasthan, India.
Bhavani GS; Genetic Clinic, Department of Pediatrics, Mother and Chlid Hospital, MDM Hospital, Shastri Nagar, Jodhpur, Rajasthan, India.
Chaudhary M; Genetic Clinic, Department of Pediatrics, Mother and Chlid Hospital, MDM Hospital, Shastri Nagar, Jodhpur, Rajasthan, India.
Kohli S; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, 110060, India.
Verma IC; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, 110060, India. icverma@gmail.com.

Indian J Pediatr ; 83(11): 1341-1345, 2016 Nov.

Article em En | MEDLINE | ID: mdl-27753005

Assuntos

Síndrome da Fibromatose Hialina/genética; Criança; Códon de Iniciação; Fazendeiros; Humanos; Mutação; Receptores de Peptídeos/genética

Palavras-chave

ANTXR2 gene; CMG2 gene; Hyaline fibromatosis syndrome; Infantile systemic hyalinosis (ISH); "Mali (farmer) community in Jodhpur"

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome da Fibromatose Hialina Limite: Child / Humans Idioma: En Revista: Indian J Pediatr Ano de publicação: 2016 Tipo de documento: Article

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