Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

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Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

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2013 nî lūn-bûn

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Novel mutations in ADAMTSL2 ge ...... ies from United Arab Emirates.

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Novel mutations in ADAMTSL2 ge ...... ies from United Arab Emirates.

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Novel mutations in ADAMTSL2 ge ...... ies from United Arab Emirates.

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Novel mutations in ADAMTSL2 ge ...... ies from United Arab Emirates.

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Novel mutations in ADAMTSL2 ge ...... ies from United Arab Emirates.

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Novel mutations in ADAMTSL2 ge ...... ies from United Arab Emirates.

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P1476

Novel mutations in ADAMTSL2 ge ...... ies from United Arab Emirates.

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Aisha M Al-Shamsi

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Jozef Hertecant

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Salma Ben-Salem

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P2860

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

Microenvironmental regulation by fibrillin-1

WebLogo: A Sequence Logo Generator

A method and server for predicting damaging missense mutations

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

The ADAMTS(L) family and human genetic disorders

A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family

ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

MutationTaster evaluates disease-causing potential of sequence alterations

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764-769

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scholarly article

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10.1002/BDRA.23170

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Lihadh Al-Gazali

Bassam R. Ali

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2013-09-06T00:00:00Z

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P5875

256469651

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24014090

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